Spontaneous D-G translocation in fibroblasts derived from a patient with trisomy 21 mosaicism

Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.

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Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.

Current oncology (Toronto, Ont.)·2020

Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium.

Endoscopy international open·2018

Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome.

Clinical genetics·2014

Quinacrine fluorescence and Giemsa banding in trisomy 22.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2014

Hereditary colorectal cancer registries in Canada: report from the Colorectal Cancer Association of Canada consensus meeting; Montreal, Quebec; October 28, 2011.

Current oncology (Toronto, Ont.)·2013

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

Clinical genetics·2026

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Clinical genetics·2026

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Clinical genetics·2026

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

Clinical genetics·2026

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Clinical genetics·2026

Non-linear Age-related Patterns of Sleep Architecture in First-episode Schizophrenia: A Restricted Cubic Spline Analysis.

Current neuropharmacology·2026

Non-redundant functions of insulin/FOXO and EcR signaling pathways regulate accessory gland structure, function and male fertility in Drosophila.

Journal of insect physiology·2026

SLC32A1 regulates puberty onset in female mice by modulating GnRH neuron function through Kisspeptin and GABA-GABAB receptor signaling.

Theriogenology·2026

Genetic Causes of Disorders of Sex Development in Thai Children.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

A novel microdeletion syndrome involving 17q23.3 region in a child with short stature and multiple congenital anomalies: A Case Report.

Cytogenetic and genome research·2026

BdPiwi is essential for gametogenesis and post-embryonic development in the oriental fruit fly, Bactrocera dorsalis.

Pest management science·2026

Related Experiment Videos

Spontaneous D-G translocation in fibroblasts derived from a patient with trisomy 21 mosaicism

Related Concept Videos

Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.

Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium.

Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome.

Quinacrine fluorescence and Giemsa banding in trisomy 22.

Hereditary colorectal cancer registries in Canada: report from the Colorectal Cancer Association of Canada consensus meeting; Montreal, Quebec; October 28, 2011.

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Non-linear Age-related Patterns of Sleep Architecture in First-episode Schizophrenia: A Restricted Cubic Spline Analysis.

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SLC32A1 regulates puberty onset in female mice by modulating GnRH neuron function through Kisspeptin and GABA-GABAB receptor signaling.

Genetic Causes of Disorders of Sex Development in Thai Children.

A novel microdeletion syndrome involving 17q23.3 region in a child with short stature and multiple congenital anomalies: A Case Report.

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Related Experiment Videos

Spontaneous D-G translocation in fibroblasts derived from a patient with trisomy 21 mosaicism

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