Centre hospitalier universitaire de Poitiers (CHU de Poitiers)

Hospital


Location: Poitiers, France (FR) FR

ISNI: 0000000093364276

ROR: https://ror.org/029s6hd13

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article, Erratum The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article Priapism at Diagnosis of Pediatric Chronic Myeloid Leukemia: Data Derived from a Large Cohort of Children and Teenagers and a Narrative Review on Priapism Management (2023) Suttorp M, Sembill S, Kalwak K, Metzler M, Millot F Journal article, Review article Effect of the COVID-19 pandemic on surgery for indeterminate thyroid nodules (THYCOVID): a retrospective, international, multicentre, cross-sectional study (2023) Medas F, Dobrinja C, Al-Suhaimi EA, Altmeier J, Anajar S, Arikan AE, Azaryan I, et al. Journal article Management of children and adolescents with chronic myeloid leukemia in blast phase: International pediatric CML expert panel recommendations (2023) Sembill S, Ampatzidou M, Chaudhury S, Dworzak M, Kalwak K, Karow A, Kiani A, et al. Journal article, Review article De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission (2022) Platzer K, Sticht H, Bupp C, Ganapathi M, Pereira EM, Le Guyader G, Bilan F, et al. Journal article Clinical reporting following the quantification of cerebrospinal fluid biomarkers in Alzheimer's disease: An international overview (2021) Delaby C, Teunissen CE, Blennow K, Alcolea D, Arisi I, Amar EB, Beaume A, et al. Journal article COVID-19 vaccination in patients with multiple myeloma: a consensus of the European Myeloma Network (2021) Ludwig H, Sonneveld P, Facon T, San-Miguel J, Avet-Loiseau H, Mohty M, Mateos MV, et al. Journal article, Review article Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al. Journal article
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