Human Mutation
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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability

2022 ◽  
Author(s):  
Pan Gong ◽  
Jing Liu ◽  
Xianru Jiao ◽  
Yue Niu ◽  
Jia Wang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive

scholarly journals Molecular characterization of a large cohort of Mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis Study (IMPRESsion)

2022 ◽  
Author(s):  
Saeed Reza Ghaffari ◽  
Maryam Rafati ◽  
Mahdi Shadnoush ◽  
Shokooh Pourbabaee ◽  
Mohammad Aghighi ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Large Cohort

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

2022 ◽  
Author(s):  
Penelope Jordan ◽  
Guillaume Dorval ◽  
Christelle Arrondel ◽  
Vincent Morinière ◽  
Carole Tournant ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Large Series ◽  
Renal Diseases ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

2022 ◽  
Author(s):  
Ralph Mazijk ◽  
Annechien E.G. Haarman ◽  
Lies H. Hoefsloot ◽  
Jan Roelof Polling ◽  
Marianne Tienhoven ◽  
...  
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Novel Mutations ◽  
Multigenerational Families

scholarly journals Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

2022 ◽  
Author(s):  
Hannah L. Marko ◽  
Nadine C. Hornig ◽  
Regina C. Betz ◽  
Paul‐Martin Holterhus ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Genomic Variants ◽  
Sex Development ◽  
Differences Of Sex Development

scholarly journals Issue Information

2021 ◽  
Vol 43 (1) ◽  
pp. 1-2

Functionally impaired RPL8 variants associated with Diamond‐Blackfan anemia and a Diamond‐Blackfan anemia‐like phenotype

2021 ◽  
Author(s):  
Simon Lebaron ◽  
Marie‐Françoise O’Donohue ◽  
Scott C. Smith ◽  
Kendra L. Engleman ◽  
Jane Juusola ◽  
...  
Keyword(s):  
Diamond Blackfan Anemia ◽  
Functionally Impaired

scholarly journals Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

2021 ◽  
Author(s):  
Lise Lolle Holm ◽  
Thomas Koed Doktor ◽  
Michael Birkerod Hansen ◽  
Ulrika Simone Spangsberg Petersen ◽  
Brage Storstein Andresen
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