Found: 21
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Evaluating the Plausibility of Euploid Embryos Transfer on Day-5 by Reanalysis of Day-3 Single Aneuploid Embryos: A Case Series.
- Published in:
- Journal of Reproduction & Infertility, 2024, v. 25, n. 1, p. 56, doi. 10.18502/jri.v25i1.15200
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- Publication type:
- Article
Frequency of Sperm Aneuploidy in Oligoasthenoteratozoospermic (OAT) Patients by Comprehensive Chromosome Screening: A Proof of Concept.
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- Journal of Reproduction & Infertility, 2021, v. 22, n. 1, p. 57, doi. 10.18502/jri.v22i1.4996
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- Publication type:
- Article
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.
- Published in:
- 2017
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- Publication type:
- Case Study
5p13 microduplication in a malformed fetus and his unaffected father.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 370, doi. 10.1002/ajmg.a.63030
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- Publication type:
- Article
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 555, doi. 10.1038/ejhg.2010.252
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- Publication type:
- Article
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 115, doi. 10.1038/ejhg.2010.132
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- Publication type:
- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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- Publication type:
- Article
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
- Published in:
- Cell Journal (Yakhteh), 2019, v. 21, n. 3, p. 337, doi. 10.22074/cellj.2019.6053
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- Publication type:
- Article
Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome.
- Published in:
- Pediatric Reports, 2021, v. 13, n. 1, p. 9, doi. 10.3390/pediatric13010002
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- Publication type:
- Article
Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient.
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- Clinical Case Reports, 2019, v. 7, n. 6, p. 1149, doi. 10.1002/ccr3.2020
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- Publication type:
- Article
Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 6, p. 469, doi. 10.1111/ahg.12278
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- Publication type:
- Article
Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.
- Published in:
- 2015
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- Publication type:
- Journal Article
Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.
- Published in:
- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 5, p. 296
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- Publication type:
- Article
Investigation of Microdeletions in Syndromic Intellectual Disability by MLPA in Iranian Population.
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- 2014
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- Publication type:
- Journal Article
Investigation of Microdeletions in Syndromic Intellectual Disability by MLPA in Iranian Population.
- Published in:
- Archives of Iranian Medicine (AIM), 2014, v. 17, n. 7, p. 471
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- Publication type:
- Article
Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.820
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- Publication type:
- Article
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86309-9
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- Publication type:
- Article
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.
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- Human Mutation, 2011, v. 32, n. 12, p. 1427, doi. 10.1002/humu.21585
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- Publication type:
- Article
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
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- Human Mutation, 2010, v. 31, n. 5, p. E1348, doi. 10.1002/humu.21234
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- Publication type:
- Article
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
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- Human Mutation, 2007, v. 28, n. 9, p. 874, doi. 10.1002/humu.20529
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- Publication type:
- Article
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7019, doi. 10.1007/s12035-016-0202-y
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- Publication type:
- Article