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PubPharm (158)
1
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Kaiyrzhanov, R.
|
Ortigoza-Escobar, J.
|
Stringer, B.
| +27
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2
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants
enthalten in:
Pediatric neurology
| 2024
von
Kilic, M.
|
Yildiz, E.
|
Deniz, A.
| +8
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3
HMZDupFinder : a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
enthalten in:
Nucleic acids research
| 2024
von
Du, H.
|
Dardas, Z.
|
Jolly, A.
| +16
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4
A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy
enthalten in:
Hormone research in paediatrics
| 2024
von
Yavas Abali, Z.
|
Gokpinar Ili, E.
|
Bas, F.
| +11
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5
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
enthalten in:
Brain : a journal of neurology
| 2024
von
Almousa, H.
|
Lewis, S.
|
Bakhtiari, S.
| +57
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6
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
enthalten in:
Brain : a journal of neurology
| 2023
von
Maroofian, R.
|
Kaiyrzhanov, R.
|
Cali, E.
| +83
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7
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11
enthalten in:
Molecular syndromology
| 2023
von
Uzunyayla-Inci, G.
|
Kiykim, E.
|
Zubarioglu, T.
| +2
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8
Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy
enthalten in:
The International journal of neuroscience
| 2023
von
Yucesan, E.
|
Goncu, B.
|
Ozgul, C.
| +4
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9
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
enthalten in:
Molecular syndromology
| 2023
von
Demir, .
|
Alavanda, C.
|
Yeşil, G.
| +2
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10
A Rare Cause of Hypergonadotropic Hypogonadism : Transaldolase Deficiency in Two Siblings
enthalten in:
Journal of clinical research in pediatric endocrinology
| 2023
von
Yildiz, M.
|
Onal, Z.
|
Yesil, G.
| +6
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Pediatric nephrology
7
American journal of medical genetics. Part A
6
Pediatric nephrology (Berlin, Germany)
5
American journal of human genetics
5
Orphanet journal of rare diseases
4
American Journal of Medical Genetics Part C: Se...
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Clinical neurology and neurosurgery
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Molecular biology reports
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Nature genetics
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ResearchSquare.com
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The Turkish journal of pediatrics
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Hormones
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Human mutation
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Acta neurologica Belgica
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84
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Research Support, N.I.H., Extramural
12
Childhood
9
Child
9
Hypertension
8
Hematuria
8
IgA nephropathy
8
Low renin hypertension
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Proteinuria
8
Sensorineural hearing loss
7
Epilepsy
5
Nuclear Proteins
5
Proteins
5
Review
4
Alport syndrome
4
Apparent mineralocorticoid excess
4
Cell Cycle Proteins
4
Central adrenal insufficiency
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2020-
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