Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies | Zendy

Nisha Patel | Zendy; Mohammed A. Aldahmesh | Zendy; Hisham Alkuraya | Zendy; Shamsa Anazi | Zendy; Hadeel Alsharif | Zendy; Arif O. Khan | Zendy; Asma Sunker | Zendy; Saleh Al-mohsen | Zendy; Emad B. Abboud | Zendy; Sawsan R. Nowilaty | Zendy; Mohammed AlOwain | Zendy; Hamad Alzaidan | Zendy; Bandar AlSaud | Zendy; Ali Alasmari | Zendy; Ghada M. H. AbdelSalam | Zendy; Mohamed Abouelhoda | Zendy; Firdous Abdulwahab | Zendy; Niema Ibrahim | Zendy; Ewa A. Naim | Zendy; Banan AlYounes | Zendy; Abeer AlMostafa | Zendy; Abdulelah AlIssa | Zendy; Mais Hashem | Zendy; Olga Buzovetsky | Zendy; Yong Xiong | Zendy; Dorota Monies | Zendy; Nada Al Tassan | Zendy; Ranad Shaheen | Zendy; Selwa A.F. Al-Hazzaa | Zendy; Fowzan S. Alkuraya | Zendy

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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Author(s) -

Nisha Patel,

Mohammed A. Aldahmesh,

Hisham Alkuraya,

Shamsa Anazi,

Hadeel Alsharif,

Arif O. Khan,

Asma Sunker,

Saleh Al-mohsen,

Emad B. Abboud,

Sawsan R. Nowilaty,

Mohammed AlOwain,

Hamad Alzaidan,

Bandar AlSaud,

Ali Alasmari,

Ghada M. H. AbdelSalam,

Mohamed Abouelhoda,

Firdous Abdulwahab,

Niema Ibrahim,

Ewa A. Naim,

Banan AlYounes,

Abeer AlMostafa,

Abdulelah AlIssa,

Mais Hashem,

Olga Buzovetsky,

Yong Xiong,

Dorota Monies,

Nada Al Tassan,

Ranad Shaheen,

Selwa A.F. Al-Hazzaa,

Fowzan S. Alkuraya

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.127

Subject(s) - exome sequencing , retinitis pigmentosa , genetics , allelic heterogeneity , locus (genetics) , genetic heterogeneity , allele , locus heterogeneity , exome , biology , medicine , mutation , gene , phenotype

Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically and molecularly characterize a large cohort of RD patients.

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