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2017
11 Citations (Scopus)

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Guo, L., Girisha, K. M., Iida, A., Hebbar, M., Shukla, A., Shah, H., Nishimura, G., Matsumoto, N., Nismath, S., Miyake, N. & Ikegawa, S., 01-03-2017, In : Journal of Human Genetics. 62, 3, p. 437-441 5 p.

Research output: Contribution to journalArticle

Leucine
Phosphotransferases
Mutation
Genes
Acro-Osteolysis
2016
3 Citations (Scopus)

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Hebbar, M., Prasada L, H., Bhowmik, A. D., Trujillano, D., Shukla, A., Chakraborti, S., Kandaswamy, K. K., Rolfs, A., Kamath, N., Dalal, A., Bielas, S. & Girisha, K. M., 01-09-2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2486-2489 4 p.

Research output: Contribution to journalLetter

2017
1 Citation (Scopus)

India Allele Finder: A web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin

Zhang, J. F., James, F., Shukla, A., Girisha, K. M. & Paciorkowski, A. R., 27-06-2017, In : BMC Research Notes. 10, 1, 233.

Research output: Contribution to journalArticle

India
Alleles
Exome
Population
Nucleotides
2016
1 Citation (Scopus)

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2

Hebbar, M., Girisha, K. M. & Shukla, A., 13-05-2016, In : BMJ Case Reports. 2016, 215162.

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Tooth Abnormalities
Clavicle
Inborn Genetic Diseases
Skull
2015
1 Citation (Scopus)

Anomalies associated with single umbilical artery at perinatal autopsy

Nayak, S. S., Shukla, A. & Girisha, K. M., 01-01-2015, In : Indian Pediatrics. 52, 1, p. 73-74 2 p.

Research output: Contribution to journalArticle

Single Umbilical Artery
Autopsy
Fetus
Aborted Fetus
Gestational Age

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Shukla, A., Mandal, K., Patil, S. J., Kishore, Y., Phadke, S. R. & Girisha, K. M., 01-08-2015, In : American Journal of Medical Genetics, Part A. 167, 8, p. 1927-1931 5 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Williams Syndrome
2019
1 Citation (Scopus)

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

Salian, S., Nampoothiri, S., Shukla, A. & Girisha, K. M., 01-01-2019, In : Congenital Anomalies. 59, 1, p. 26-27 2 p.

Research output: Contribution to journalArticle

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

Kaur, P., Neethukrishna, K., Kumble, A., Girisha, K. M. & Shukla, A., 01-05-2019, In : American Journal of Medical Genetics, Part A. 179, 5, p. 857-861 5 p.

Research output: Contribution to journalArticle

Brain Diseases
Internal Capsule
Inborn Errors Metabolism
Microcephaly
Muscle Hypotonia
2018
1 Citation (Scopus)

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Undiagnosed Diseases Network members, 06-12-2018, In : American Journal of Human Genetics. 103, 6, p. 948-967 20 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Nervous System
Clustered Regularly Interspaced Short Palindromic Repeats
Craniofacial Abnormalities
Hypertrichosis
2019

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Type 1 Pena Shokeir syndrome
1 Citation (Scopus)

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

Uttarilli, A., Shah, H., Bhavani, G. S. L., Upadhyai, P., Shukla, A. & Girisha, K. M., 01-03-2019, In : Bone. 120, p. 204-211 8 p.

Research output: Contribution to journalArticle

India
Dysostoses
Osteogenesis Imperfecta
Inborn Genetic Diseases
Genetic Heterogeneity
2018
7 Citations (Scopus)

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Mrosk, J., Bhavani, G. S. L., Shah, H., Hecht, J., Krüger, U., Shukla, A., Kornak, U. & Girisha, K. M., 01-05-2018, In : Bone. 110, p. 368-377 10 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Genetic Association Studies
Mutation
Exome
Bony Callus
2017
7 Citations (Scopus)

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations

Salian, S., Cho, T. J., Phadke, S. R., Gowrishankar, K., Bhavani, G. S. L., Shukla, A., Jagadeesh, S., Kim, O. H., Nishimura, G. & Girisha, K. M., 01-03-2017, In : American Journal of Medical Genetics, Part A. 173, 3, p. 588-595 8 p.

Research output: Contribution to journalArticle

Genetic Databases
Mutation
Intellectual Disability
Ilium
Genetic Heterogeneity
2019
1 Citation (Scopus)

Gaucher disease: Single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation 06 Biological Sciences 0601 Biochemistry and Cell Biology

Sheth, J., Bhavsar, R., Mistri, M., Pancholi, D., Bavdekar, A., Dalal, A., Ranganath, P., Girisha, K. M., Shukla, A., Phadke, S., Puri, R., Panigrahi, I., Kaur, A., Muranjan, M., Goyal, M., Ramadevi, R., Shah, R., Nampoothiri, S., Danda, S., Datar, C. & 3 others, Kapoor, S., Bhatwadekar, S. & Sheth, F., 14-02-2019, In : BMC Medical Genetics. 20, 1, 31.

Research output: Contribution to journalArticle

Gaucher Disease
Biological Science Disciplines
Biochemistry
Cell Biology
Mutation
2016
Ichthyosis
Single Nucleotide Polymorphism
Mutation
DNA
Genes
2018
1 Citation (Scopus)

FLNA mutations in surviving males presenting with connective tissue findings: Two new case reports and review of the literature

Cannaerts, E., Shukla, A., Hasanhodzic, M., Alaerts, M., Schepers, D., Van Laer, L., Girisha, K. M., Hojsak, I., Loeys, B. & Verstraeten, A., 08-08-2018, In : BMC Medical Genetics. 19, 1, 140.

Research output: Contribution to journalArticle

Filamins
Connective Tissue
Mutation
Joint Instability
Mitral Valve Prolapse
2019
5 Citations (Scopus)

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Girisha, K. M., von Elsner, L., Neethukrishna, K., Muranjan, M., Shukla, A., Bhavani, G. S. L., Nishimura, G., Kutsche, K. & Mortier, G., 01-01-2019, In : Human Mutation.

Research output: Contribution to journalArticle

Epiphyses
Exome
Ethanolamine
Mitochondrial Membranes
Cell Survival
2015
18 Citations (Scopus)

Clinical utility of fetal autopsy and its impact on genetic counseling

Nayak, S. S., Shukla, A., Lewis, L., Kadavigere, R., Mathew, M., Adiga, P. K., Vasudeva, A., Kumar, P., Shetty, J., Shah, H. & Girisha, K. M., 01-07-2015, In : Prenatal Diagnosis. 35, 7, p. 685-691 7 p.

Research output: Contribution to journalArticle

Genetic Counseling
Autopsy
Fetus
Counseling
Recurrence
2018
13 Citations (Scopus)

Williams–Beuren syndrome in diverse populations

Kruszka, P., Porras, A. R., de Souza, D. H., Moresco, A., Huckstadt, V., Gill, A. D., Boyle, A. P., Hu, T., Addissie, Y. A., Mok, G. T. K., Tekendo-Ngongang, C., Fieggen, K., Prijoles, E. J., Tanpaiboon, P., Honey, E., Luk, H. M., Lo, I. F. M., Thong, M. K., Muthukumarasamy, P., Jones, K. L. & 30 others, Belhassan, K., Ouldim, K., El Bouchikhi, I., Bouguenouch, L., Shukla, A., Girisha, K. M., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Mishra, R., Kisling, M. S., Ferreira, C. R., de Herreros, M. B., Lee, N. C., Jamuar, S. S., Lai, A., Tan, E. S., Ying Lim, J., Wen-Min, C. B., Gupta, N., Lotz-Esquivel, S., Badilla-Porras, R., Hussen, D. F., El Ruby, M. O., Ashaat, E. A., Patil, S. J., Dowsett, L., Eaton, A., Innes, A. M. & Shotelersuk, V., 01-05-2018, In : American Journal of Medical Genetics, Part A. 176, 5, p. 1128-1136 9 p.

Research output: Contribution to journalArticle

Population
Technology
Phenotype
Asian Americans
Lip
2017
17 Citations (Scopus)

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Shukla, A., Hebbar, M., Srivastava, A., Kadavigere, R., Upadhyai, P., Kanthi, A., Brandau, O., Bielas, S. & Girisha, K. M., 01-07-2017, In : Journal of Human Genetics. 62, 7, p. 723-727 5 p.

Research output: Contribution to journalArticle

Founder Effect
Exome
Biological Phenomena
Lactic Acidosis
Protein Stability
2018
6 Citations (Scopus)
Microcephaly
Quadriplegia
Muscle Spasticity
Seizures
Cisterna Magna
2017
12 Citations (Scopus)

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

Shukla, A., Upadhyai, P., Shah, J., Neethukrishna, K., Bielas, S. & Girisha, K. M., 01-02-2017, In : European Journal of Medical Genetics. 60, 2, p. 118-123 6 p.

Research output: Contribution to journalArticle

Ataxia
Spinocerebellar Degenerations
Protein Conformation
Purkinje Cells
Autophagy
2016

What does fetal autopsy unmask in oligohydramnios?

Nayak, S. S., Shukla, A., Kodandapani, S., Adiga, P. K. & Girisha, K. M., 17-07-2016, In : Journal of Maternal-Fetal and Neonatal Medicine. 29, 14, p. 2347-2351 5 p.

Research output: Contribution to journalArticle

Oligohydramnios
Autopsy
Fetus
Amniotic Fluid
Fetal Growth Retardation
2014
2 Citations (Scopus)

A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients

Singh, K., Agarwal, S., Shukla, A. & Gupta, S., 01-2014, In : Journal of Clinical Densitometry. 17, 1, p. 185-189 5 p.

Research output: Contribution to journalArticle

beta-Thalassemia
Transforming Growth Factor beta
Bone Density
Osteoporosis
Genes
2012
15 Citations (Scopus)

Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India

Singh, K., Kumar, R., Shukla, A., Phadke, S. R. & Agarwal, S., 09-2012, In : Hematology. 17, 5, p. 291-296 6 p.

Research output: Contribution to journalArticle

Calcitriol Receptors
Thalassemia
Bone Density
India
Spine
2016
2 Citations (Scopus)

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene

Narayanan, D. L., Shukla, A., Siddesh, A. R., Stephen, J., Srivastava, P., Mandal, K. & Phadke, S. R., 01-09-2016, In : Indian Journal of Pediatrics. 83, 9, p. 1003-1005 3 p.

Research output: Contribution to journalArticle

Mutation
Genes
Hypotrichosis
India
Cartilage-hair hypoplasia
2014
3 Citations (Scopus)

Fibrodysplasia ossificans progressiva: Three Indian patients with mutation in the ACVR1 gene

Shukla, A., Taywade, O., Stephen, J., Gupta, D. & Phadke, S. R., 2014, In : Indian Journal of Pediatrics. 81, 6, p. 617-619 3 p.

Research output: Contribution to journalArticle

Myositis Ossificans
Mutation
Genes
Unnecessary Procedures
Inborn Genetic Diseases
2018

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome

Hebbar, M., Kanthi, A., Shrikiran, A., Patil, S., Muranjan, M., Francis, F., Bhat B, V., Girisha, K. M. & Shukla, A., 01-01-2018, In : American Journal of Medical Genetics, Part A. 176, 1, p. 156-160 5 p.

Research output: Contribution to journalArticle

Exome
Lymphocytosis
Virus Diseases
Nervous System Diseases
Interferons
1 Citation (Scopus)

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

Hebbar, M., Kanthi, A., Shukla, A., Bielas, S. & Girisha, K. M., 01-07-2018, In : Journal of Human Genetics. 63, 8, p. 935-939 5 p.

Research output: Contribution to journalArticle

Cystic Kidney Diseases
Exome
Muscle Hypotonia
Corpus Callosum
Publications
1 Citation (Scopus)

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Srivastava, A., Srivastava, K. R., Hebbar, M., Galada, C., Kadavigrere, R., Su, F., Cao, X., Chinnaiyan, A. M., Girisha, K. M., Shukla, A. & Bielas, S. L., 01-11-2018, In : European Journal of Human Genetics. 26, 11, p. 1582-1587 6 p.

Research output: Contribution to journalArticle

Population
Leigh Disease
Exome
Electron Transport Complex I
Flavin Mononucleotide

Facial profile and additional features in fetuses with trisomy 21

Radhakrishnan, P., Nayak, S. S., Shukla, A. & Girisha, K. M., 01-10-2018, In : Clinical Dysmorphology. 27, 4, p. 126-129 4 p.

Research output: Contribution to journalArticle

Down Syndrome
Fetus
Audiovisual Aids
Aneuploidy
Pregnancy
2019

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV

Radhakrishnan, P., Moirangthem, A., Nayak, S. S., Shukla, A., Mathew, M. & Girisha, K. M., 01-01-2019, In : Clinical Dysmorphology. 28, 1, p. 17-21 5 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type IV
Glycogen Storage Disease
Fetus
Exome
Genetic Counseling
2018
6 Citations (Scopus)

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 01-05-2018, In : European Journal of Human Genetics. 26, 5, p. 695-708 14 p.

Research output: Contribution to journalArticle

Microcephaly
Protein Isoforms
Pons
Paraplegia
Mesencephalon
2019

GATAD2B-related intellectual disability due to parental mosaicism and review of literature

Kaur, P., Mishra, S., Rajesh, S. M., Girisha, K. M. & Shukla, A., 01-10-2019, In : Clinical Dysmorphology. 28, 4, p. 190-194 5 p.

Research output: Contribution to journalArticle

Mosaicism
Zinc Fingers
Intellectual Disability
Exome
Muscle Hypotonia

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M. & Shukla, A., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Heterogeneous-Nuclear Ribonucleoproteins
Heterogeneous Nuclear RNA
Muscle Hypotonia
Mosaicism

Meckel syndrome: Clinical and mutation profile in six fetuses

Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A. & Girisha, K. M., 01-01-2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Fetus
Mutation
Nervous System Malformations
Exome
Polydactyly

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

Kaur, P., Bhavani, G. S. L., Raj, A., Girisha, K. M. & Shukla, A., 01-12-2019, In : Journal of Human Genetics. 64, 12, p. 1237-1242 6 p.

Research output: Contribution to journalArticle

Striatonigral Degeneration
Dystonic Disorders
Phenotype
Dystonia
Caudate Nucleus
2018
1 Citation (Scopus)
Calcium-Independent Phospholipase A2
Exome
Mitochondrial Diseases
Microcephaly
Lactic Acidosis
2017
18 Citations (Scopus)

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Harms, F. L., Girisha, K. M., Hardigan, A. A., Kortüm, F., Shukla, A., Alawi, M., Dalal, A., Brady, L., Tarnopolsky, M., Bird, L. M., Ceulemans, S., Bebin, M., Bowling, K. M., Hiatt, S. M., Lose, E. J., Primiano, M., Chung, W. K., Juusola, J., Akdemir, Z. C., Bainbridge, M. & 13 others, Charng, W. L., Drummond-Borg, M., Eldomery, M. K., El-Hattab, A. W., Saleh, M. A. M., Bézieau, S., Cogné, B., Isidor, B., Küry, S., Lupski, J. R., Myers, R. M., Cooper, G. M. & Kutsche, K., 05-01-2017, In : American Journal of Human Genetics. 100, 1, p. 117-127 11 p.

Research output: Contribution to journalArticle

Mutant Proteins
Ataxia
Intellectual Disability
Exome
Language Development Disorders
4 Citations (Scopus)

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2

Somashekar, P. H., Shukla, A. & Girisha, K. M., 08-04-2017, (Accepted/In press) In : Ophthalmic Genetics. p. 1-4 4 p.

Research output: Contribution to journalArticle

Microphthalmos
Exome
Anophthalmos
Mothers
Coloboma
2019
1 Citation (Scopus)

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Nampoothiri, S., Phadke, S. R., Park, M. J., Ikegawa, S., Wang, Z., Higgs, M. R. & 15 others, Stewart, G. S., Jung, E., Lee, M. S., Park, J. H., Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O. H., Choi, M., Lee, H. W., Kim, Y. & Cho, T. J., 07-03-2019, In : American Journal of Human Genetics. 104, 3, p. 439-453 15 p.

Research output: Contribution to journalArticle

Exome
DNA Replication
DNA Repair
Computer Simulation
Embryonic Development
2017

Cover Image, Volume 173A, Number 3, March 2017

Salian, S., Cho, T. J., Phadke, S. R., Gowrishankar, K., Bhavani, G. S. L., Shukla, A., Jagadeesh, S., Kim, O. H., Nishimura, G. & Girisha, K. M., 01-03-2017, In : American journal of medical genetics. Part A. 173, 3, p. i

Research output: Contribution to journalArticle

Mutation
2018

Erratum to: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 (Nature, (2018), 557, 7706, (564-569), 10.1038/s41586-018-0118-y)

Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., de Sousa, S. B., Karaman, B., Latypova, X., Başaran, S., Yücel, E. B., Tan, T. T., Vlaminck, L., Nayak, S. S., Shukla, A., Girisha, K. M. & 7 others, Le Caignec, C., Soshnikova, N., Uyguner, Z. O., Vleminckx, K., Barker, N., Kayserili, H. & Reversade, B., 13-09-2018, In : Nature. 561, 7722, p. E7

Research output: Contribution to journalComment/debate

Belgium
Medical Genetics
Extremities
2015
22 Citations (Scopus)

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

Stephen, J., Girisha, K. M., Dalal, A., Shukla, A., Shah, H., Srivastava, P., Kornak, U. & Phadke, S. R., 01-01-2015, In : European Journal of Medical Genetics. 58, 1, p. 21-27 7 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Mutation
Genes
Exome
Missense Mutation
2018
22 Citations (Scopus)

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., De Sousa, S. B., Karaman, B., Latypova, X., Başaran, S., Yücel, E. B., Tan, T. T., Vlaminck, L., Nayak, S. S., Shukla, A., Girisha, K. M. & 7 others, Le Caignec, C., Soshnikova, N., Uyguner, Z. O., Vleminckx, K., Barker, N., Kayserili, H. & Reversade, B., 24-05-2018, In : Nature. 557, 7706, p. 564-569 6 p.

Research output: Contribution to journalArticle

Extremities
Ligands
Regenerative Medicine
Ligases
Xenopus
2017
7 Citations (Scopus)

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

Kotabagi, S., Shah, H., Shukla, A. & Girisha, K. M., 01-09-2017, In : Clinical Genetics. 92, 3, p. 323-326 4 p.

Research output: Contribution to journalArticle

Steel
Causality
Flatfoot
Hip Dislocation
Wrist
2016
10 Citations (Scopus)

Erratum: Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis (American Journal of Human Genetics (2016) 99(5) (1206–1216) (S0002929716304001) (10.1016/j.ajhg.2016.09.019))

Delle Vedove, A., Storbeck, M., Heller, R., Hölker, I., Hebbar, M., Shukla, A., Magnusson, O., Cirak, S., Girisha, K. M., O'Driscoll, M., Loeys, B. & Wirth, B., 01-12-2016, In : American Journal of Human Genetics. 99, 6, p. 1406-1408 3 p.

Research output: Contribution to journalComment/debate

Arthrogryposis
Proprioception
Muscular Atrophy
Medical Genetics
Scoliosis