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PubPharm (63)
1
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
enthalten in:
Pediatric neurology
| 2023
von
Ahmad, N.
|
Fazeli, W.
|
Schließke, S.
| +28
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2
De novo variants in RAB11B cause various degrees of lobal developmental delay and intellectual disability in children
enthalten in:
Pediatric neurology
| November 2023
von
Ahmad, N.
|
Fazeli, W.
|
Schließke, S.
| +28
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3
De novo variants in ATP2B1 lead to neurodevelopmental delay
enthalten in:
American journal of human genetics
| 2022
von
Rahimi, M.
|
Urban, N.
|
Wegler, M.
| +33
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4
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Arlt, A.
|
Kohlschmidt, N.
|
Hentschel, A.
| +14
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5
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Arlt, A.
|
Kohlschmidt, N.
|
Hentschel, A.
| +14
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6
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Arlt, A.
|
Kohlschmidt, N.
|
Hentschel, A.
| +14
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7
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease
enthalten in:
Neuropediatrics
| 2021
von
Mroczek, M.
|
Zafeiriou, D.
|
Gurgel-Gianetti, J.
| +9
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8
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype
enthalten in:
American journal of medical genetics. Part A
| 2019
von
Spier, I.
|
Engels, H.
|
Stutte, S.
| +6
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9
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
enthalten in:
Birth defects research. Part A, Clinical and molecular teratology
| 2015
von
Dworschak, G.
|
Draaken, M.
|
Hilger, A.
| +13
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10
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder
enthalten in:
Human molecular genetics
| 2014
von
Reutter, H.
|
Draaken, M.
|
Pennimpede, T.
| +30
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Pediatric surgery international
8
Birth defects research. Part A, Clinical and mo...
7
Orphanet journal of rare diseases
4
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Teratology
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American journal of medical genetics. Part A
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30
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27
Research Support, Non-U.S. Gov't
9
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7
Anal atresia
7
Anorectal malformation
5
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4
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3
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3
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3
ER-stress
3
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3
Focal dermal hypoplasia
3
Goltz syndrome
3
Lamin a/c
3
Multiplex family
3
Protein-serine O-palmitoleoyltransferase porcupine
3
Transcription Factors
3
Twin Study
3
Ultrashort Hirschsprung’s disease
2
Adaptor Proteins, Signal Transducing
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