Found: 12
Select item for more details and to access through your institution.
Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13).
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 153, doi. 10.1034/j.1399-0004.2000.580212.x
- By:
- Publication type:
- Article
Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 2, p. 120, doi. 10.1111/j.1399-0004.1997.tb02529.x
- By:
- Publication type:
- Article
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 12, p. 667, doi. 10.1038/jhg.2014.92
- By:
- Publication type:
- Article
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 773, doi. 10.1002/ajmg.a.61495
- By:
- Publication type:
- Article
A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2382, doi. 10.1002/ajmg.a.40431
- By:
- Publication type:
- Article
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 445, doi. 10.1002/ajmg.a.36874
- By:
- Publication type:
- Article
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0330-8
- By:
- Publication type:
- Article
Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-14
- By:
- Publication type:
- Article
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 2, p. 189, doi. 10.1007/s10815-015-0622-z
- By:
- Publication type:
- Article
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1833, doi. 10.1002/ajmg.a.34005
- By:
- Publication type:
- Article
Familial occurrence of isodicentric X chromosomes with different breakpoints.
- Published in:
- Clinical Genetics, 1988, v. 34, n. 3, p. 153, doi. 10.1111/j.1399-0004.1988.tb02855.x
- By:
- Publication type:
- Article