Suchergebnisse - "Raymond, F. Lucy"

1

H Kehrer-sawatzki and DN Cooper (eds): Copy number variation and disease

von: Raymond, F. Lucy

2009, in: Human genetics

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2

Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study

von: Baker, Kate

2015, in: Journal of neurodevelopmental disorders

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3

Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach

von: Donnelly, Nicholas

2023, in: Molecular autism

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4

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

von: French, Courtney E.

2019, in: Intensive care medicine

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5

Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2

von: Ferner, Rosalie E.

2014, in: Journal of neurology

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6

Population screening requires robust evidence—genomics is no exception

von: Turnbull, Clare

2024, in: No title available

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7

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

von: Sanchis-Juan, Alba

2018, in: Genome medicine

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8

Mutations in FRMD7 , a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

von: Tarpey, Patrick

2006, in: Nature genetics

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9

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

von: Tuijnenburg, Paul

2018, in: Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward

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10

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

von: Lorenzini, Tiziana

2020, in: Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward

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