List of works by Soumaya Mougou-Zerelli

Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature

scientific article published on 26 April 2017

BBS10 mutations are common in 'Meckel'-type cystic kidneys

scientific article published on 30 August 2010

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia

scientific article published on 19 August 2011

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

scientific article published on 8 September 2016

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article

Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits

scientific article published on 14 October 2015

Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

scientific article

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

scientific article published on 18 June 2013

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