Found: 16
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PRINS as a method for rapid chromosomal labeling on human spermatozoa.
- Published in:
- Molecular Reproduction & Development, 1995, v. 40, n. 3, p. 333, doi. 10.1002/mrd.1080400309
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- Publication type:
- Article
Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 769, doi. 10.1002/ajmg.a.36331
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- Publication type:
- Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
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- Publication type:
- Article
Le chromothripsis: Une forme insoupçonnée de complexification extrême des remaniements chromosomiques.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 3, p. 266, doi. 10.1051/medsci/20143003014
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- Publication type:
- Article
Les remaniements chromosomiques complexes Un paradigme pour l'étude de l'instabilité chromosomique.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 1, p. 55, doi. 10.1051/medsci/20143001014
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- Publication type:
- Article
Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 2, p. 181, doi. 10.1002/(SICI)1097-0223(199902)19:2<181::AID-PD507>3.0.CO;2-Z
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- Publication type:
- Article
Prenatal diagnosis for cystic fibrosis using SSCP analysis.
- Published in:
- Prenatal Diagnosis, 1993, v. 13, n. 2, p. 147, doi. 10.1002/pd.1970130211
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- Publication type:
- Article
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01191-6
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- Publication type:
- Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
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- Publication type:
- Article
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 136, doi. 10.1038/ejhg.2013.56
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- Publication type:
- Article
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243
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- Publication type:
- Article
Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques.
- Published in:
- 2001
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- Publication type:
- journal article
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.895
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- Publication type:
- Article
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1085, doi. 10.1002/pd.2350
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- Publication type:
- Article
Prader-Willi syndrome: is there a recognizable fetal phenotype?
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 796, doi. 10.1002/pd.1973
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- Publication type:
- Article
Early prenatal diagnosis of ICF syndrome by mutation detection.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 11, p. 1075, doi. 10.1002/pd.1826
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- Publication type:
- Article