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Human Mutation
Latest Publications
TOTAL DOCUMENTS
6487
(FIVE YEARS 631)
H-INDEX
153
(FIVE YEARS 11)
Published By Wiley (John Wiley & Sons)
1098-1004, 1059-7794
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
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
Human Mutation
◽
10.1002/humu.24330
◽
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
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Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability
Human Mutation
◽
10.1002/humu.24329
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2022
◽
Author(s):
Pan Gong
◽
Jing Liu
◽
Xianru Jiao
◽
Yue Niu
◽
Jia Wang
◽
...
Keyword(s):
Intellectual Disability
◽
Autosomal Recessive
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Molecular characterization of a large cohort of Mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis Study (IMPRESsion)
Human Mutation
◽
10.1002/humu.24328
◽
2022
◽
Author(s):
Saeed Reza Ghaffari
◽
Maryam Rafati
◽
Mahdi Shadnoush
◽
Shokooh Pourbabaee
◽
Mohammad Aghighi
◽
...
Keyword(s):
Molecular Characterization
◽
Large Cohort
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Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Human Mutation
◽
10.1002/humu.24324
◽
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
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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene
Human Mutation
◽
10.1002/humu.24327
◽
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
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Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Human Mutation
◽
10.1002/humu.24326
◽
2022
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Author(s):
Marcello Scala
◽
Saskia B. Wortmann
◽
Namik Kaya
◽
Menno D. Stellingwerff
◽
Angela Pistorio
◽
...
Keyword(s):
Prognostic Factors
◽
Epileptic Encephalopathy
◽
Molecular Spectrum
◽
Radiological Features
◽
Inosine Triphosphate Pyrophosphatase
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Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development
Human Mutation
◽
10.1002/humu.24325
◽
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
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Issue Information
Human Mutation
◽
10.1002/humu.24223
◽
2021
◽
Vol 43
(1)
◽
pp. 1-2
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Functionally impaired RPL8 variants associated with Diamond‐Blackfan anemia and a Diamond‐Blackfan anemia‐like phenotype
Human Mutation
◽
10.1002/humu.24323
◽
2021
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Author(s):
Simon Lebaron
◽
Marie‐Françoise O’Donohue
◽
Scott C. Smith
◽
Kendra L. Engleman
◽
Jane Juusola
◽
...
Keyword(s):
Diamond Blackfan Anemia
◽
Functionally Impaired
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Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers
Human Mutation
◽
10.1002/humu.24321
◽
2021
◽
Author(s):
Lise Lolle Holm
◽
Thomas Koed Doktor
◽
Michael Birkerod Hansen
◽
Ulrika Simone Spangsberg Petersen
◽
Brage Storstein Andresen
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