Albert Schinzel

Zurich, ZH, Switzerland

Last Updated: 09/26/2026

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Found 16 publications

Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.

Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.

Journal: Journal of assisted reproduction and genetics

Published: December 07, 2021

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Journal: Genes

Published: March 01, 2021

Network-based analysis using chromosomal microdeletion syndromes as a model.

Network-based analysis using chromosomal microdeletion syndromes as a model.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: October 19, 2020

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Journal: Human mutation

Published: August 21, 2018

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Journal: Molecular syndromology

Published: March 29, 2017

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Journal: European journal of human genetics : EJHG

Published: January 26, 2017

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Journal: American journal of human genetics

Published: September 21, 2016

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Journal: PLoS genetics

Published: September 17, 2016

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Journal: Clinical genetics

Published: March 24, 2016

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.

Journal: Molecular cytogenetics

Published: August 24, 2014

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

Journal: European journal of human genetics : EJHG

Published: January 03, 2014

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Journal: American journal of medical genetics. Part A

Published: February 14, 2013

Showing 1-12 of 16

Last Updated: 09/26/2026