Suchergebnisse - "Barry, Brenda J."

PubPharm (24)

1

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

enthalten in: JAMA neurology | 2023

von Akula, S. | Chen, A. | Neil, J. | +129

2

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

enthalten in: Nature genetics | 2023

von Tenney, A. | Di Gioia, S. | Webb, B. | +55

3

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

enthalten in: European journal of human genetics : EJHG | 2021

von Jurgens, J. | Barry, B. | Lemire, G. | +15

4

Phenotype delineation of ZNF462 related syndrome

enthalten in: American journal of medical genetics. Part A | 2019

von Kruszka, P. | Hu, T. | Hong, S. | +29

5

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

enthalten in: Human molecular genetics | 2019

von Whitman, M. | Miyake, N. | Nguyen, E. | +9

6

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

enthalten in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2018

von Khalil, R. | Kenny, C. | Hill, R. | +13

7

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

enthalten in: American journal of human genetics | 2018

von Dobyns, W. | Aldinger, K. | Ishak, G. | +32

8

Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura

enthalten in: Developmental cell | 2017

von Tischfield, M. | Robson, C. | Gilette, N. | +9

CommentIn: Dev Cell. 2017 Sep 11;42(5):435-436. - PMID 28898672

9

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

enthalten in: Nature communications | 2017

von Di Gioia, S. | Connors, S. | Matsunami, N. | +68

10

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

enthalten in: American journal of medical genetics. Part A | 2016

von Al-Maawali, A. | Barry, B. | Rajab, A. | +8