Indira Gandhi Institute of Child Health

Hospital


Location: Bengaluru, India (IN) IN

ROR: https://ror.org/04saq4y86

close-button

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Unpublished / Preprint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

From
To

Abstract

Journal

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia (2026) Kulosik L, Schanze I, Zacher P, Al-Awam BS, Srinivasan VM, Gowda VK, Krey I, et al. Journal article Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement (2026) Galassi Deforie V, Maroofian R, Karagoz I, Godwin A, Al Sheikh E, Gestri G, Zaki MS, et al. Journal article Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025) Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, et al. Journal article HPDL Variant Type Correlates With Clinical Disease Onset and Severity (2025) Lee EH, Kim-Mcmanus O, Yang JH, Haas R, Zaki MS, Abdel-Salam GM, Nakamura Y, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (2023) Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, et al. Journal article