Found: 13
Select item for more details and to access through your institution.
Heart rate variability.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.
- Published in:
- Human Reproduction, 2015, v. 30, n. 2, p. 484, doi. 10.1093/humrep/deu314
- By:
- Publication type:
- Article
Who should be screened for chromosomal abnormalities before ICSI treatment?
- Published in:
- Human Reproduction, 2010, v. 25, n. 11, p. 2673, doi. 10.1093/humrep/deq258
- By:
- Publication type:
- Article
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 376, doi. 10.1038/sj.ejhg.5200229
- By:
- Publication type:
- Article
Molecular and clinical studies in 8 patients with Temple syndrome.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 6, p. 1179, doi. 10.1111/cge.13244
- By:
- Publication type:
- Article
De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 5, p. 1030, doi. 10.1111/cge.13198
- By:
- Publication type:
- Article
MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD-TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 4, p. 375, doi. 10.1002/(SICI)1097-0223(199704)17:4<375::AID-PD55>3.0.CO;2-V
- By:
- Publication type:
- Article
Death in CHARGE syndrome after the neonatal period.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 3, p. 232, doi. 10.1111/j.1399-0004.2009.01334.x
- By:
- Publication type:
- Article
CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 1, p. 65, doi. 10.1111/j.1399-0004.2008.01107.x
- By:
- Publication type:
- Article
3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1223, doi. 10.1002/ajmg.a.36556
- By:
- Publication type:
- Article
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
- Published in:
- Experimental Dermatology, 2006, v. 15, n. 9, p. 731, doi. 10.1111/j.1600-0625.2006.00474.x
- By:
- Publication type:
- Article