Suchergebnisse - "Straussberg, Rachel"

PubPharm (185)

1

BRAT1-related disorders : phenotypic spectrum and phenotype-genotype correlations from 97 patients

enthalten in: European journal of human genetics : EJHG | 2023

von Engel, C. | Valence, S. | Delplancq, G. | +87

2

Infant Botulism, Israel, 2007-2021

enthalten in: Emerging infectious diseases | 2023

von Goldberg, B. | Danino, D. | Levinsky, Y. | +10

3

Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2022

von Avital, D. | Peretz, S. | Perlow, E. | +9

4

Rheumatic fever in a developed country - is it still relevant? A retrospective, 25 years follow-up

enthalten in: Pediatric rheumatology online journal | 2022

von Tal, R. | Hamad Saied, M. | Zidani, R. | +5

5

Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up

enthalten in: Pediatric rheumatology | 2022

von Tal, R. | Hamad Saied, M. | Zidani, R. | +5

6

Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up

enthalten in: Pediatric rheumatology | 2022

von Tal, R. | Hamad Saied, M. | Zidani, R. | +5

7

The phenotype of homozygous EMC10 variant : A new syndrome with intellectual disability and language impairment

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2022

von Haddad-Eid, E. | Gur, N. | Eid, S. | +2

8

Deletion in COL4A2 is associated with a three-generation variable phenotype : from fetal to adult manifestations

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

von Hausman-Kedem, M. | Ben-Sira, L. | Kidron, D. | +7

9

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Shao, D. | Straussberg, R. | Ahmed, H. | +30

10

The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

enthalten in: Molecular psychiatry | 2021

von Ambrozkiewicz, M. | Borisova, E. | Schwark, M. | +21

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