Evidence that the Menkes locus maps on proximal Xp

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Journal of medical genetics·2010

Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.

The Journal of clinical endocrinology and metabolism·2010

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Clinical genetics·2010

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Molecular psychiatry·2009

Dual purinergic synaptic transmission in the human enteric nervous system.

American journal of physiology. Gastrointestinal and liver physiology·2007

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

European journal of medical genetics·2007

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Human genetics·2026

The Russian FSHD registry: a first look at the cohort.

Human genetics·2026

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Human genetics·2026

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Human genetics·2026

Towards routine accurate electron-density studies of biological macromolecules.

Acta crystallographica. Section D, Structural biology·2026

Transferability of ion force fields to OPC water: Maintaining single-ion and ion-pairing properties.

The Journal of chemical physics·2026

From Dipeptide Systems to Polypeptides: Evolution of Mutual Information.

ACS omega·2026

Investigation of FLASH Proton Radiation Induced DNA Double Strand Breaks in Plasmid DNA Using Atomic Force Microscopy.

International journal of radiation oncology, biology, physics·2026

Complexes of d-block metal ions with N-trifluoroethyl cyclam derivatives with bifunctional phosphinic acid pendant arms as 19F MRI probes.

Dalton transactions (Cambridge, England : 2003)·2026

Opportunities and challenges of sub-1μm particle columns in ultra-high-pressure liquid chromatography: A theoretical framework.

Journal of chromatography. A·2026

Related Experiment Videos

Evidence that the Menkes locus maps on proximal Xp

Related Concept Videos

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Dual purinergic synaptic transmission in the human enteric nervous system.

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

The Russian FSHD registry: a first look at the cohort.

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Towards routine accurate electron-density studies of biological macromolecules.

Transferability of ion force fields to OPC water: Maintaining single-ion and ion-pairing properties.

From Dipeptide Systems to Polypeptides: Evolution of Mutual Information.

Investigation of FLASH Proton Radiation Induced DNA Double Strand Breaks in Plasmid DNA Using Atomic Force Microscopy.

Complexes of d-block metal ions with N-trifluoroethyl cyclam derivatives with bifunctional phosphinic acid pendant arms as 19F MRI probes.

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Evidence that the Menkes locus maps on proximal Xp

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