Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134

Abnormalities in Cortical GABAergic Interneurons of the Primary Motor Cortex Caused by Lis1 (Pafah1b1) Mutation Produce a Non-drastic Functional Phenotype.

Frontiers in cell and developmental biology·2022

Molecular genetics of myotonic dystrophy.

Trends in cardiovascular medicine·2011

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.

Clinical neuropathology·2010

Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain: a preliminary study.

Neuroscience·2006

Missense mutations resulting in type 1 lissencephaly.

Cellular and molecular life sciences : CMLS·2005

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muscle & nerve·2004

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

QTL mapping.

Genetics·2026

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Case reports in ophthalmological medicine·2026

Altered thalamo-prefrontal synchrony dynamics during spatial working memory task performance in a SETD1A loss-of-function mouse model of schizophrenia predisposition.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology·2026

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Related Experiment Videos

Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134

Related Concept Videos

Abnormalities in Cortical GABAergic Interneurons of the Primary Motor Cortex Caused by Lis1 (Pafah1b1) Mutation Produce a Non-drastic Functional Phenotype.

Molecular genetics of myotonic dystrophy.

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.

Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain: a preliminary study.

Missense mutations resulting in type 1 lissencephaly.

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

QTL mapping.

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Altered thalamo-prefrontal synchrony dynamics during spatial working memory task performance in a SETD1A loss-of-function mouse model of schizophrenia predisposition.

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Related Experiment Videos

Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134

Related Concept Videos

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