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PubPharm (39)
1
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
enthalten in:
HGG advances
| 2023
von
Blue, E.
|
White, J.
|
Dush, M.
| +26
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2
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
enthalten in:
Human mutation
| 2022
von
Lima, A.
|
Ferreira, B.
|
Zhang, C.
| +46
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3
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability
enthalten in:
HGG advances
| 2022
von
Zhang, C.
|
Jolly, A.
|
Shayota, B.
| +48
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4
Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome
enthalten in:
Human mutation
| 2022
von
Lima, A.
|
Ferreira, B.
|
Zhang, C.
| +46
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5
Back Cover, Volume 43, Issue 7
enthalten in:
Human mutation
| 2022
von
Lima, A.
|
Ferreira, B.
|
Zhang, C.
| +46
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6
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Zhang, C.
|
Mazzeu, J.
|
Eisfeldt, J.
| +10
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7
Further delineation of van den Ende-Gupta syndrome : Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Hildebrandt, C.
|
Patel, N.
|
Graham, J.
| +13
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8
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2021
von
Zhang, C.
|
Mazzeu, J.
|
Eisfeldt, J.
| +10
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9
Further delineation of van den Ende‐Gupta syndrome : Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2021
von
Hildebrandt, C.
|
Patel, N.
|
Graham, J.
| +12
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10
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2020
von
Mirzaa, G.
|
Chong, J.
|
Piton, A.
| +75
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American journal of human genetics
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American journal of medical genetics. Part A
3
Human mutation
2
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HGG advances
2
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2
Journal of child and adolescent psychopharmacology
1
Birth Defects Research
1
Birth defects research
1
JAMA neurology
1
Journal of affective disorders
1
Molecular genetics & genomic medicine
1
The Journal of clinical endocrinology and metab...
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Thema
22
Journal Article
18
Research Support, N.I.H., Extramural
15
Research Support, Non-U.S. Gov't
5
Intellectual Disability
4
EC 2.7.10.1
4
skeletal dysplasia
3
Chromatin conformation
3
Congenital Heart Disease
3
DVL1 protein, human
3
Diagnostic
3
Disease network
3
Dishevelled Proteins
3
Intellectual disability
3
Missense Variant
3
Okadaic Acid
3
ROR2 protein, human
3
Receptor Tyrosine Kinase-like Orphan Receptors
3
Text mining
2
Adaptor Proteins, Signal Transducing
2
Autism Spectrum Disorder
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Erscheinungszeitraum
10
2020-
29
2010-2019
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Englisch
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