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PubPharm (12)
1
Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
in:
SAGE Open Medical Case Reports
| 2024
von
Rachel L Aubry
|
A. Micheil Innes
|
Richard M Haber
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2
P295: Expanding the prenatal phenotype of a rare syndrome due to variants in DPH1
in:
Genetics in Medicine Open
| 2024
von
Emily Dunn
|
Carly Smith
|
Catrina Loucks
| +2
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3
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
in:
Genetics in Medicine Open
| 2024
von
Teresa Campbell
|
Jesse Slone
|
Hallie Metzger
| +13
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4
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function
in:
Molecular Brain
| 2021
von
Maria A. Gandini
|
Ivana A. Souza
|
Laurent Ferron
| +2
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5
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
in:
Nature Communications
| 2021
von
Sukhleen Kour
|
Deepa S. Rajan
|
Tyler R. Fortuna
| +67
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6
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import
in:
International Journal of Molecular Sciences
| 2020
von
Tian Zhao
|
Caitlin Goedhart
|
Gerald Pfeffer
| +5
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7
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyResearch in context
in:
EBioMedicine
| 2019
von
Walaa Almutawa
|
Christopher Smith
|
Rasha Sabouny
| +13
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8
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
in:
Annals of Clinical and Translational Neurology
| 2019
von
Jaya Punetha
|
Ender Karaca
|
Alper Gezdirici
| +12
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9
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
in:
Nature Communications
| 2018
von
Erfan Aref-Eshghi
|
Eric G. Bend
|
Rebecca L. Hood
| +24
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10
When One Diagnosis Is Not Enough
enthalten in:
The New England journal of medicine
| 2017
von
Kym M Boycott
|
A Micheil Innes
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1
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