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

Expanding the phenotypic and molecular spectrum of NFS1 ‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron‐sulfur cluster containing enzymes

2022 ◽  
Author(s):  
Jennifer H. Yang ◽  
Marisa W. Friederich ◽  
Katarzyna A. Ellsworth ◽  
Aliya Frederick ◽  
Emily Foreman ◽  
...  
Keyword(s):  
Molecular Spectrum ◽  
Iron Sulfur Cluster ◽  
Sulfur Cluster ◽  
Iron Sulfur

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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