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PubPharm (138)
1
Pathogenic variants in
SMARCA5
, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
enthalten in:
bioRxiv.org
| 2022
von
Li, D.
|
Wang, Q.
|
Gong, N.
| +35
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2
Response to Hamosh et al
enthalten in:
American journal of human genetics
| 2021
von
Biesecker, L.
|
Adam, M.
|
Alkuraya, F.
| +44
CommentOn: Am J Hum Genet. 2021 Jan 7;108(1):8-15. - PMID 33417889
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3
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Sheppard, S.
|
Campbell, I.
|
Harr, M.
| +98
ErratumIn: Am J Med Genet A. 2022 Mar;188(3):1015. - PMID 34761848
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4
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
enthalten in:
American journal of human genetics
| 2021
von
Rots, D.
|
Chater-Diehl, E.
|
Dingemans, A.
| +85
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5
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
enthalten in:
Science advances
| 2021
von
Li, D.
|
Wang, Q.
|
Gong, N.
| +35
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6
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
enthalten in:
Human genetics
| 2021
von
Quintero-Rivera, F.
|
Eno, C.
|
Sutanto, C.
| +7
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7
A dyadic approach to the delineation of diagnostic entities in clinical genomics
enthalten in:
American journal of human genetics
| 2021
von
Biesecker, L.
|
Adam, M.
|
Alkuraya, F.
| +44
CommentIn: Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. - PMID 34478655
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8
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
enthalten in:
Human genetics
| 2021
von
Quintero-Rivera, F.
|
Eno, C.
|
Sutanto, C.
| +7
Wird geladen...
9
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
enthalten in:
Human genetics
| 2021
von
Quintero-Rivera, F.
|
Eno, C.
|
Sutanto, C.
| +7
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10
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
enthalten in:
Human genetics
| 2021
von
Quintero-Rivera, F.
|
Eno, C.
|
Sutanto, C.
| +7
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American journal of medical genetics. Part A
19
American journal of medical genetics
16
American journal of medical genetics / C
15
American journal of human genetics
5
Clinical dysmorphology
4
Genetics in medicine : official journal of the ...
4
Human mutation
4
Prenatal diagnosis
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Nature genetics
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The radiologist
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American Journal of Medical Genetics Part C: Se...
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American journal of medical genetics. Part C, S...
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American journal of perinatology
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Genetics in medicine
2
Human genetics
2
Human genetics <Berlin>
2
Orphanet journal of rare diseases
2
Pediatric and developmental pathology : the off...
2
The American journal of psychiatry
2
bioRxiv.org
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Thema
62
Journal Article
28
Research Support, Non-U.S. Gov't
23
Case Reports
16
Research Support, N.I.H., Extramural
8
7-dehydrocholesterol reductase
8
EC 1.3.-
8
EC 1.3.1.21
8
Oxidoreductases Acting on CH-CH Group Donors
8
Review
6
Letter
4
EC 2.7.11.1
4
EC 3.6.4.-
4
Nerve Tissue Proteins
4
Proteins
4
Research Support, N.I.H., Intramural
3
7-dehydrocholesterol
3
97C5T2UQ7J
3
Adenosine Triphosphatases
3
BK1IU07GKF
3
Cholesterol
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1900-1999
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