Suchergebnisse - "Bernstein, Jonathan A"

PubPharm (138)

1

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

enthalten in: Journal of neurodevelopmental disorders | 2024

von Levy, T. | Gluckman, J. | Siper, P. | +16

2

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

enthalten in: Journal of medical genetics | 2023

von Mohajeri, A. | Vaseghi-Shanjani, M. | Rosenfeld, J. | +126

3

Macrocephaly and developmental delay caused by missense variants in RAB5C

enthalten in: Human molecular genetics | 2023

von Koop, K. | Yuan, W. | Tessadori, F. | +146

4

Unraveling non-participation in genomic research : A complex interplay of barriers, facilitators, and sociocultural factors

enthalten in: Journal of genetic counseling | 2023

von McConkie-Rosell, A. | Spillmann, R. | Schoch, K. | +106

5

Genomics Research with Undiagnosed Children : Ethical Challenges at the Boundaries of Research and Clinical Care

enthalten in: The Journal of pediatrics | 2023

von Halley, M. | Young, J. | Tang, C. | +106

6

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Shashi, V. | Schoch, K. | Ganetzky, R. | +125

7

Updated consensus guidelines on the management of Phelan-McDermid syndrome

enthalten in: American journal of medical genetics. Part A | 2023

von Srivastava, S. | Sahin, M. | Buxbaum, J. | +42

8

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

enthalten in: American journal of human genetics | 2023

von Morleo, M. | Venditti, R. | Theodorou, E. | +134

9

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

enthalten in: American journal of medical genetics. Part A | 2023

von Borja, N. | Borjas-Mendoza, P. | Bivona, S. | +108

10

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

enthalten in: Annals of clinical and translational neurology | 2023

von Pujol-Giménez, J. | Mirzaa, G. | Blue, E. | +131

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