allelic disorders
Recently Published Documents

TOTAL DOCUMENTS

23
(FIVE YEARS 0)

H-INDEX

11
(FIVE YEARS 0)
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

2020 ◽  
Vol 8 (6) ◽  
Author(s):  
Pernille A. Gregersen ◽  
Victoria McKay ◽  
Maie Walsh ◽  
Erica Brown ◽  
George McGillivray ◽  
...  
Keyword(s):  
Literature Review ◽  
Diaphyseal Dysplasia ◽  
Allelic Disorders

Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders

2018 ◽  
Vol 179 (4) ◽  
pp. 1001-1002 ◽  
Author(s):  
D. Vodo ◽  
N. Malchin ◽  
M. Furman ◽  
O. Sarig ◽  
E. Sprecher
Keyword(s):  
Recurrent Mutation ◽  
Allelic Disorders ◽  
Acantholytic Dyskeratosis

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)

2017 ◽  
Vol 173 (9) ◽  
pp. 2439-2441 ◽  
Author(s):  
Mohammad M. Al-Qattan ◽  
Ranad Shaheen ◽  
Fowzan S. Alkuraya
Keyword(s):  
Syndrome Type ◽  
Allelic Disorders

Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders

2017 ◽  
Vol 53 (1) ◽  
pp. 128-138
Author(s):  
O. L. Mironovich ◽  
E. A. Bliznetz ◽  
T. G. Markova ◽  
E. N. Geptner ◽  
M. R. Lalayants ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Pendred Syndrome ◽  
Allelic Disorders

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

2016 ◽  
Vol 170 (6) ◽  
pp. 1622-1625 ◽  
Author(s):  
Shubha R. Phadke ◽  
Anjana Kar ◽  
Aneek Das Bhowmik ◽  
Ashwin Dalal
Keyword(s):  
Allelic Disorders

scholarly journals Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

2016 ◽  
Vol 98 (1) ◽  
pp. 75-89 ◽  
Author(s):  
Alice E. Davidson ◽  
Petra Liskova ◽  
Cerys J. Evans ◽  
Lubica Dudakova ◽  
Lenka Nosková ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Allelic Disorders

Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due toATP1A3gene mutations

2012 ◽  
Vol 27 (12) ◽  
pp. 1494-1494 ◽  
Author(s):  
Athanasia Alexoudi ◽  
Susanne A. Schneider
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Allelic Disorders

scholarly journals Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

2009 ◽  
Vol 42 (2) ◽  
pp. 165-169 ◽  
Author(s):  
Han-Xiang Deng ◽  
Christopher J Klein ◽  
Jianhua Yan ◽  
Yong Shi ◽  
Yanhong Wu ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Allelic Disorders

scholarly journals X-linked cataract and Nance-Horan syndrome are allelic disorders

2009 ◽  
Vol 18 (14) ◽  
pp. 2643-2655 ◽  
Author(s):  
Margherita Coccia ◽  
Simon P. Brooks ◽  
Tom R. Webb ◽  
Katja Christodoulou ◽  
Izabella O. Wozniak ◽  
...  
Keyword(s):  
Allelic Disorders
Load More ...
Sign in / Sign up

Export Citation Format

Share Document