about
TCTN3 mutations cause Mohr-Majewski syndromeMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationNovel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.New insights into genotype-phenotype correlation for GLI3 mutations.Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermiaMolecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients.Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits.BBS10 mutations are common in 'Meckel'-type cystic kidneys.Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.
P50
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P50
name
Soumaya Mougou-Zerelli
@ast
Soumaya Mougou-Zerelli
@en
Soumaya Mougou-Zerelli
@es
Soumaya Mougou-Zerelli
@fr
Soumaya Mougou-Zerelli
@nl
type
label
Soumaya Mougou-Zerelli
@ast
Soumaya Mougou-Zerelli
@en
Soumaya Mougou-Zerelli
@es
Soumaya Mougou-Zerelli
@fr
Soumaya Mougou-Zerelli
@nl
prefLabel
Soumaya Mougou-Zerelli
@ast
Soumaya Mougou-Zerelli
@en
Soumaya Mougou-Zerelli
@es
Soumaya Mougou-Zerelli
@fr
Soumaya Mougou-Zerelli
@nl