Found: 13
Select item for more details and to access through your institution.
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33457-0
- By:
- Publication type:
- Article
High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 8, p. 731, doi. 10.1002/gcc.20335
- By:
- Publication type:
- Article
Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 5, p. 437, doi. 10.1002/gcc.20308
- By:
- Publication type:
- Article
Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1351, doi. 10.1002/pd.6003
- By:
- Publication type:
- Article
The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 875, doi. 10.3390/genes12060875
- By:
- Publication type:
- Article
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 986, doi. 10.1038/ejhg.2012.43
- By:
- Publication type:
- Article
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
- Published in:
- Nature Biotechnology, 2014, v. 32, n. 10, p. 1019, doi. 10.1038/nbt.2959
- By:
- Publication type:
- Article
Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
- Published in:
- Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00657-x
- By:
- Publication type:
- Article
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0253-9
- By:
- Publication type:
- Article
Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4033, doi. 10.3390/jcm11144033
- By:
- Publication type:
- Article
Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 492, doi. 10.1002/ajmg.a.38553
- By:
- Publication type:
- Article
Social and medical need for whole genome high resolution NIPT.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1062
- By:
- Publication type:
- Article