Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Clinical epigenetics·2019

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

Clinical genetics·2018

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

Journal of neuromuscular diseases·2016

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Human genetics·2015

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy.

Neurology·2011

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Journal of thrombosis and haemostasis : JTH·2011

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

EXPRESS: Sex-dependent roles for RIPK1 in the subacute period of intracerebral hemorrhage in mice.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism·2026

A conserved zinc-finger gene BmZFO721 regulates meiosis and female fertility in silkworm, Bombyx mori.

Insect biochemistry and molecular biology·2026

Pedigree-Based comparison of short-read and long-read sequencing for forensic mitochondrial genome analysis.

International journal of legal medicine·2026

Spatiotemporal development of sparse excitatory neuronal types within the deep mouse cortex.

iScience·2026

Extended genotype-phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement.

Frontiers in endocrinology·2026

Hippo signaling regulates dorsoventral patterning in Drosophila head and eye development.

iScience·2026

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Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and

Related Concept Videos

A genome-wide DNA methylation signature for SETD1B-related syndrome.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy.

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

EXPRESS: Sex-dependent roles for RIPK1 in the subacute period of intracerebral hemorrhage in mice.

A conserved zinc-finger gene BmZFO721 regulates meiosis and female fertility in silkworm, Bombyx mori.

Pedigree-Based comparison of short-read and long-read sequencing for forensic mitochondrial genome analysis.

Spatiotemporal development of sparse excitatory neuronal types within the deep mouse cortex.

Extended genotype-phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement.

Hippo signaling regulates dorsoventral patterning in Drosophila head and eye development.

Related Experiment Videos

Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and...

Related Concept Videos

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Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and