| | Title | Authors / Editors | Date |
|
unige:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
|
unige:31209 |
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus |
Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine |
2012 |
|
unige:34656 |
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? |
Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand |
2012 |
|
unige:5576 |
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 |
Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos |
2009 |
|
unige:43968 |
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects |
Lu, Weining; Quintero-Rivera, Fabiola; Fan, Yanli; Alkuraya, Fowzan S; ... Maas, Richard L |
2007 |
|
unige:8862 |
Schizophrenia and chromosomal deletions within 22q11.2 |
Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. |
1995 |
Abnormalities, multiple/genetics
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