Trisomy 4 due to nondisjunction during maternal meiosis II

Preoperative joint line convergence angle correction is a key factor in optimising accuracy in varus knee correction osteotomy.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA·2022

MECHANISMS OF NONDISJUNCTION AND IMPLICATIONS FOR TESTING ANEUGENS.

Biologisches Zentralblatt·2018

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Cytogenetic and genome research·2013

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

Clinical genetics·2013

A family with an inverted tandem duplication 5q22.1q23.2.

Cytogenetic and genome research·2012

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Clinical genetics·2012

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Clinical outcomes and management of syphilis during pregnancy amidst the Northern Territory syphilis outbreak: a 10-year retrospective cohort study.

Sexual health·2026

Population Prevalence and Incident HPA-1a Alloimmunisation in Pregnancy: A Prospective, Multi-Ethnic, Natural History Study.

BJOG : an international journal of obstetrics and gynaecology·2026

[A novel CYP19A1 variant causing aromatase deficiency in a family: case report and literature review].

Zhonghua nei ke za zhi·2026

Is in-vitro fertilization a risk factor for perinatal morbidity in late term pregnancies beyond 41 weeks of gestation? A comparative retrospective study.

Journal of gynecology obstetrics and human reproduction·2026

Improving follow-up utilizing Plan-Do-Study-Act cycles and a texting intervention for patients with pregnancy of unknown location.

Healthcare (Amsterdam, Netherlands)·2026

Testicular Tissue Cryopreservation in Prepubertal Boys: Current Advances, Clinical Feasibility, and Future Directions-A Comprehensive Literature Review.

Andrology·2026

Related Experiment Videos

Trisomy 4 due to nondisjunction during maternal meiosis II

Related Concept Videos

Preoperative joint line convergence angle correction is a key factor in optimising accuracy in varus knee correction osteotomy.

MECHANISMS OF NONDISJUNCTION AND IMPLICATIONS FOR TESTING ANEUGENS.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

A family with an inverted tandem duplication 5q22.1q23.2.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical outcomes and management of syphilis during pregnancy amidst the Northern Territory syphilis outbreak: a 10-year retrospective cohort study.

Population Prevalence and Incident HPA-1a Alloimmunisation in Pregnancy: A Prospective, Multi-Ethnic, Natural History Study.

[A novel CYP19A1 variant causing aromatase deficiency in a family: case report and literature review].

Is in-vitro fertilization a risk factor for perinatal morbidity in late term pregnancies beyond 41 weeks of gestation? A comparative retrospective study.

Improving follow-up utilizing Plan-Do-Study-Act cycles and a texting intervention for patients with pregnancy of unknown location.

Testicular Tissue Cryopreservation in Prepubertal Boys: Current Advances, Clinical Feasibility, and Future Directions-A Comprehensive Literature Review.

Related Experiment Videos

Trisomy 4 due to nondisjunction during maternal meiosis II

Related Concept Videos

Related Articles