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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11

2022 ◽  
Author(s):  
Yi‐Dan Liu ◽  
Shu‐Shu Huang ◽  
Mei Li ◽  
Monkol Lek ◽  
Dan‐Yu Song ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinol Dehydrogenase

Bi‐Allelic null variant in Matrix Metalloproteinase‐15 MMP ‐15, causes Congenital Cardiac Defect, Cholestasis Jaundice and Failure to Thrive

2022 ◽  
Author(s):  
Hanadi A. Abdelrahman ◽  
Nadia Akawi ◽  
Aisha M. Al‐Shamsi ◽  
Amanat Ali ◽  
Fatma Al‐Jasmi ◽  
...  
Keyword(s):  
Matrix Metalloproteinase ◽  
Failure To Thrive ◽  
Cardiac Defect ◽  
Congenital Cardiac Defect

scholarly journals Corrigendum

2022 ◽  
Vol 101 (2) ◽  
pp. 272-272

scholarly journals Issue Information

2022 ◽  
Vol 101 (2) ◽  
pp. 147-147

Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition

2021 ◽  
Author(s):  
Orli Michaeli ◽  
Hagay Ladany ◽  
Ayelet Erez ◽  
Shay Ben Shachar ◽  
Shai Izraeli ◽  
...  
Keyword(s):  
Pediatric Cancer ◽  
Cancer Predisposition ◽  
Pathogenic Variants ◽  
Unique Condition

Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB

2021 ◽  
Author(s):  
Giulia Pascolini ◽  
Chiara Passarelli ◽  
Martina Lipari ◽  
Balasubramanian Chandramouli ◽  
Giovanni Chillemi ◽  
...  
Keyword(s):  
Inner Ear ◽  
Italian Family ◽  
Retraction Syndrome ◽  
Duane Retraction Syndrome ◽  
Neurodevelopmental Phenotype

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

2021 ◽  
Author(s):  
Yumi Enomoto ◽  
Takayuki Yokoi ◽  
Yoshinori Tsurusaki ◽  
Hiroaki Murakami ◽  
Makiko Tominaga ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome
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