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PubPharm (211)
1
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Salokivi, T.
|
Parkkola, R.
|
Rajendran, Y.
| +6
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2
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
enthalten in:
American journal of human genetics
| 2024
von
Pérez Baca, M.
|
Jacobs, E.
|
Vantomme, L.
| +109
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3
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Salokivi, T.
|
Parkkola, R.
|
Rajendran, Y.
| +6
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4
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Malik, M.
|
Saqib, M.
|
Mientjes, E.
| +9
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5
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Bilal, M.
|
Khan, H.
|
Khan, M.
| +15
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6
A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia
enthalten in:
Cerebellum (London, England)
| 2023
von
Tedesco Silva, L.
|
Sharma, S.
|
Schrauwen, I.
| +2
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7
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment
enthalten in:
Clinical genetics
| 2023
von
Liaqat, K.
|
Bharadwaj, T.
|
Shah, K.
| +7
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8
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Pujol-Giménez, J.
|
Mirzaa, G.
|
Blue, E.
| +131
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9
Rare-variant association analysis reveals known and new age-related hearing loss genes
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Cornejo-Sanchez, D.
|
Li, G.
|
Fabiha, T.
| +9
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10
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy
enthalten in:
Clinical genetics
| 2023
von
Faridi, R.
|
Yousaf, R.
|
Gu, S.
| +24
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211
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Zeitschriftentitel
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Human genetics
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Human genetics <Berlin>
12
Human mutation
9
European journal of human genetics : EJHG
8
American journal of human genetics
8
Genes
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Journal of human genetics
7
American journal of medical genetics. Part A
5
Annals of human genetics
4
BMC ophthalmology
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Molecular Genetics & Genomic Medicine
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Molecular genetics & genomic medicine
4
Neurology
3
American Journal of Medical Genetics Part C: Se...
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BMC medical genetics
3
BMC medical genomics
3
Genetics in medicine : official journal of the ...
3
Hearing research
3
Human molecular genetics
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Thema
115
Journal Article
78
Research Support, Non-U.S. Gov't
46
Research Support, N.I.H., Extramural
17
Case Reports
10
Otosclerosis
9
Nerve Tissue Proteins
7
Deafness
7
Hearing impairment
7
Membrane Proteins
6
Extracellular Matrix Proteins
5
Proteins
5
RNA, Messenger
5
exome sequencing
4
Africa
4
Autism spectrum disorder
4
Autosomal recessive hearing impairment
4
Carrier Proteins
4
Cell Adhesion Molecules, Neuronal
4
Childhood apraxia of speech
4
Collagen Type I
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Erscheinungszeitraum
85
2020-
109
2010-2019
17
2000-2009
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