Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.

Genes·2022

Identifying and assessing factors affecting farmers' markets Electronic Benefit Transfer sales in Hawai'i.

Public health nutrition·2020

Diet-dependent function of the extracellular matrix proteoglycan Lumican in obesity and glucose homeostasis.

Molecular metabolism·2018

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.

Bone·2017

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Clinical genetics·2016

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Clinical genetics·2015

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

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Liver disease reveals KIF12 as a regulator of mitochondria, lysosome and cilia localisation in human cholangiocytes.

EBioMedicine·2026

Transgenerational chromosome repair in the asexual bdelloid rotifer Adineta vaga.

Science advances·2026

Site-Specific Measurement of Meiotic Crossing-Over Rate with Droplet Digital PCR.

Cold Spring Harbor protocols·2026

The periphery of nuclear speckles defines a spatially and temporally regulated compartment of long-lived intron-retained RNAs that resolves during mitosis.

Nature cell biology·2026

Whole-genome sequencing identifies a c.1282C > T missense variant in Taurine Transporter (TauT) associated with taurine-mediated dilated cardiomyopathy in a family of domestic shorthair cats.

Journal of molecular and cellular cardiology·2026

Mitochondrial genome characteristics and phylogenetic analysis of Ramaria longispora.

Mitochondrial DNA. Part B, Resources·2026

Related Experiment Videos

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

Related Concept Videos

Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.

Identifying and assessing factors affecting farmers' markets Electronic Benefit Transfer sales in Hawai'i.

Diet-dependent function of the extracellular matrix proteoglycan Lumican in obesity and glucose homeostasis.

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

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.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Liver disease reveals KIF12 as a regulator of mitochondria, lysosome and cilia localisation in human cholangiocytes.

Transgenerational chromosome repair in the asexual bdelloid rotifer Adineta vaga.

Site-Specific Measurement of Meiotic Crossing-Over Rate with Droplet Digital PCR.

The periphery of nuclear speckles defines a spatially and temporally regulated compartment of long-lived intron-retained RNAs that resolves during mitosis.

Whole-genome sequencing identifies a c.1282C > T missense variant in Taurine Transporter (TauT) associated with taurine-mediated dilated cardiomyopathy in a family of domestic shorthair cats.

Mitochondrial genome characteristics and phylogenetic analysis of Ramaria longispora.

Related Experiment Videos

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

Related Concept Videos

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