Auflistung nach Autor "Koko, Mahmoud"

Anzeige der Dokumente 1-20 von 21

Nächste Seite

A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?

Liu, Yuanyuan; Koko, Mahmoud; Lerche, Holger (2021)
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

Koko, Mahmoud; Lerche, Holger (2021)
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study

Koko, Mahmoud (2022)
Association of ultra-rare genetic variants with epilepsy

Koko, Mahmoud (2023)
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

Koko, Mahmoud (2018)
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

Koko, Mahmoud (2022)
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

Koko, Mahmoud (2018)
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

Lyu, Hang; Koko, Mahmoud; Lerche, Holger; Liu, Yuanyuan; Fleszar, Zofia Maria; Schöls, Ludger; Boßelmann, Christian Malte (2023)
Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Koko, Mahmoud; Lerche, Holger (2021)
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

Koko, Mahmoud; Lerche, Holger (2022)
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders

Kegele, Josua; Koko, Mahmoud; Lerche, Holger; Lauxmann, Stephan; Krüger, Johanna (2021)
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation : a case report

Koko, Mahmoud (2018)
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Grimmel, Mona; Beck-Wödl, Stefanie; Harrer, Merle; Sturm, Marc; Wolff, Markus; Lerche, Holger; Haack, Tobias (2019)
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

Koko, Mahmoud; Hedrich, Ulrike B. S.; Lerche, Holger (2021)
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

Schubert, Julian; Kegele, Josua; Yan, Pu; Koko, Mahmoud; Weber, Yvonne G.; Lerche, Holger; Krüger, Johanna (2022)
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data

Koko, Mahmoud (2023)
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Liu, Yuanyuan; Schubert, Julian; Sonnenberg, Lukas; Koko, Mahmoud; Rannap, Maert; Lauxmann, Stephan; Becker, Felicitas; Weber, Yvonne G.; Benda, Jan; Lerche, Holger (2019)
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Koko, Mahmoud (2020)
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Koko, Mahmoud (2019)
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Koko, Mahmoud (2021)

Anzeige der Dokumente 1-20 von 21

Nächste Seite

Veröffentlichen

Stöbern

Gesamter Bestand

Mein Benutzerkonto

Einloggen

Auflistung nach Autor "Koko, Mahmoud"

Auflistung nach Autor "Koko, Mahmoud"

Stöbern

Gesamter Bestand

Mein Benutzerkonto

Hilfe & Infos