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Fertility and Sterility, ISSN 0015-0282, 2016, Volume 105, Issue 1, pp. 58 - 64
Objective To study the possible relationship between sperm aneuploidy, sperm DNA integrity, chromatin packaging, traditional semen parameters, and recurrent... 
aneuploidy | Spermatozoa | pregnancy loss | DNA damage
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 1, pp. 92 - 102
Journal Article
Human Mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 5, pp. E1319 - E1331
Journal Article
International Journal of Fertility and Sterility, ISSN 2008-076X, 10/2018, Volume 12, Issue 3, pp. 218 - 222
The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but... 
Chromosomal aberration | Translocation | Fluorescent in situ hybridization | Intellectual disability | Spontaneous abortion | Chromosomal Aberration | Original | Fluorescent In Situ Hybridization | Intellectual Disability | Spon- taneous Abortion
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2010, Volume 42, Issue 7, pp. 619 - 625
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and... 
CILIARY | GENE | DISSECTION | GRUBER-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | RENAL SYNDROME | MECHANISMS | ACTIN CYTOSKELETON | PROTEINS | Research | Meckel-Gruber syndrome | Gene mutations | Health aspects | Joubert syndrome | Risk factors
Journal Article
Human Mutation, ISSN 1059-7794, 11/2009, Volume 30, Issue 11, pp. 1574 - 1582
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 372 - 378
Journal Article
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 12/2017, Volume 6, Issue 4, pp. 215 - 221
Abstract We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth... 
Original Article | 2q duplication | COUPTF2 | kidney defect | array CGH | Original | 15q26 deletion
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 06/2017, Volume 6, Issue 2, pp. 084 - 091
Abstract Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or... 
Original Article | copy number variants | qPCR | Original | intellectual disability | comparative genomic hybridization array
Journal Article