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PubPharm (161)
1
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
enthalten in:
Brain : a journal of neurology
| 2024
von
Kaiyrzhanov, R.
|
Rad, A.
|
Lin, S.
| +86
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2
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Maroofian, R.
|
Zamani, M.
|
Kaiyrzhanov, R.
| +30
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3
Ophthalmic manifestations of Czech dysplasia
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Soh, Z.
|
Martin, H.
|
Richards, A.
| +2
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4
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Tolonen, J.
|
Parolin Schnekenberg, R.
|
McGowan, S.
| +46
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5
Ophthalmic manifestations of Czech dysplasia
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Soh, Z.
|
Martin, H.
|
Richards, A.
| +2
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6
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
enthalten in:
Movement Disorders
| 2024
von
Tolonen, J.
|
Parolin Schnekenberg, R.
|
McGowan, S.
| +45
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7
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
enthalten in:
Brain : a journal of neurology
| 2023
von
De Pace, R.
|
Maroofian, R.
|
Paimboeuf, A.
| +20
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8
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
enthalten in:
Genome medicine
| 2023
von
Lin, S.
|
Vona, B.
|
Lau, T.
| +34
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9
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
enthalten in:
Genome medicine
| 2023
von
Lin, S.
|
Vona, B.
|
Lau, T.
| +34
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10
Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
enthalten in:
bioRxiv.org
| 2023
von
Copeland, H.
|
Low, K.
|
Wynn, S.
| +89
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Clinical dysmorphology
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American journal of medical genetics. Part A
9
Human mutation
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Orphanet journal of rare diseases
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Brain : a journal of neurology
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6
DNA-Binding Proteins
6
Neurodevelopmental disorders
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Transcription Factors
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Ehlers-Danlos syndrome
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Membrane Proteins
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intellectual disability
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22q13
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Biology
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EC 2.7.11.1
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