Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Todd, Emily J ^a   Yau, Kyle S ^a   Ong, Royston ^a   Slee, Jennie ^b   McGillivray, George ^c   Barnett, Christopher P ^d   Haliloglu, Goknur ^e   Talim, Beril ^e   Akcoren, Zuhal ^e   Kariminejad, Ariana ^f   Cairns, Anita ^g   Clarke, Nigel F ^h,i   Freckmann, Mary Louise ^j   Romero, Norma B ^k   Williams, Denise ^l,m   Sewry, Caroline A ^l,m   Colley, Alison ⁿ   Ryan, Monique M ^c   Kiraly Borri, Cathy ^b   Sivadorai, Padma ^o   Allcock, Richard J N ^a   Beeson, David ^p   Maxwell, Susan ^p   Davis, Mark R ^o   Laing, Nigel G ^a,o   Ravenscroft, Gianina ^a   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b KING EDWARD MEMORIAL HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e HACETTEPE UNIVERSITY   (Turkey)

^f Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

ⁱ UNIVERSITY OF SYDNEY   (Australia)

^j SYDNEY CHILDREN'S HOSPITAL   (Australia)

^k INSERM   (France)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

ⁿ South Western Sydney Local Health District ^*  (Australia)

^o PATHWEST LABORATORY MEDICINE   (Australia)

^p UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

Arthrogryposis; Congenital myopathy; Fetal hypokinesia; Nemaline myopathy; Next generation sequencing

Indexed keywords

GENOMIC DNA;

AKINESIA; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIRTH; CHNRG GENE; CHRND GENE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DNA DETERMINATION; ECEL1 GENE; EXOME; FEMALE; GBE1 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GPR126 GENE; HUMAN; HYPOKINESIA; KLHL40 GENE; KLHL41 GENE; MALE; MTM1 GENE; MYH3 GENE; MYOPATHY; NEB GENE; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; RYR1 GENE; SPEG GENE; AMINO ACID SEQUENCE; CHILD; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MOLECULAR GENETICS; NEUROMUSCULAR DISEASES; NEWBORN; PEDIGREE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PROCEDURES; TRENDS;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; NEUROMUSCULAR DISEASES; PEDIGREE; PRENATAL DIAGNOSIS;

EID: 84946895906     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0364-0     Document Type: Article

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