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PubPharm (293)
81
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
enthalten in:
Journal of medical genetics
| 2018
von
Pilarowski, G.
|
Vernon, H.
|
Applegate, C.
| +16
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82
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders
enthalten in:
American journal of hematology
| 2018
von
Romasko, E.
|
Devkota, B.
|
Biswas, S.
| +11
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83
NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
enthalten in:
Scientific reports
| 2018
von
Mills, J.
|
Herrera, P.
|
Kaur, M.
| +8
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84
Variable Clinical Manifestations of Xia‐Gibbs syndrome : Findings of Consecutively Identified Cases at a Single Children's Hospital
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2018
von
Ritter, A.
|
McDougall, C.
|
Skraban, C.
| +15
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85
ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development
enthalten in:
Developmental cell
| 2017
von
Rohacek, A.
|
Bebee, T.
|
Tilton, R.
| +12
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86
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome : A Case Report
enthalten in:
Pediatric dermatology
| 2017
von
Yu, J.
|
Streicher, J.
|
Medne, L.
| +2
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87
Phenotypes and genotypes in individuals with SMC1A variants
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Huisman, S.
|
Mulder, P.
|
Redeker, E.
| +45
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88
Cornelia de Lange syndrome and molecular implications of the cohesin complex : Abstracts from the 7th biennial scientific and educational symposium 2016
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Kline, A.
|
Krantz, I.
|
Deardorff, M.
| +25
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89
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Schwartz, E.
|
Wilkens, A.
|
Noon, S.
| +2
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90
EPHB4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report
enthalten in:
Pediatric dermatology
| 2017
von
Yu, J.
|
Streicher, J.
|
Medne, L.
| +2
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American journal of medical genetics. Part A
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95
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84
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41
Cell Cycle Proteins
29
Proteins
28
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28
Chromosomal Proteins, Non-Histone
23
NIPBL protein, human
16
Review
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Intercellular Signaling Peptides and Proteins
14
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13
Jagged-1 Protein
12
JAG1 protein, human
12
Membrane Proteins
11
Calcium-Binding Proteins
11
Cornelia de Lange syndrome
11
DNA-Binding Proteins
11
Nuclear Proteins
11
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11
structural maintenance of chromosome protein 1
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