about
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityMultiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsHolt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsTAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ANeurodevelopmental phenotype associated with CHD8-SUPT16H duplicationImmunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsThe CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisConfirmation of risk of cancer in blepharocheilodontic syndrome
P50
Q35610918-2F4B8F4A-26EA-4B07-9D7C-3131D5774F23Q38903255-1D754B0D-19DD-4A95-8794-B0CB3A2A5D75Q47332005-D378A619-679F-48D7-96ED-BC5E3FB5152FQ57021667-54EEE505-A521-446E-B375-18FD32F70A8AQ90014797-3F1F8358-BFF5-4070-AE1F-2A521D6C1EBCQ90527320-9FD45A68-B486-494D-A251-733A0612BC71Q90754089-F88A06B5-6B7E-4F38-87A4-41C971CEC666Q91858272-FE6D31B6-06D2-4BF0-8FA2-52D280697113Q92297025-02FC0132-D945-42B4-BE50-69DE14DDB948Q92461457-759C0544-D276-43D0-8E5C-7310E32C89C5Q96127246-1190327F-61E3-4CC7-8F88-5136AC218F5B
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jamal Ghoumid
@ast
Jamal Ghoumid
@en
Jamal Ghoumid
@es
Jamal Ghoumid
@nl
Jamal Ghoumid
@sl
type
label
Jamal Ghoumid
@ast
Jamal Ghoumid
@en
Jamal Ghoumid
@es
Jamal Ghoumid
@nl
Jamal Ghoumid
@sl
prefLabel
Jamal Ghoumid
@ast
Jamal Ghoumid
@en
Jamal Ghoumid
@es
Jamal Ghoumid
@nl
Jamal Ghoumid
@sl
P106
P21
P31
P496
0000-0002-7111-0050