A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency

Public attitudes towards novel reproductive technologies: a citizens' jury on mitochondrial donation.

Human reproduction (Oxford, England)·2019

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

JIMD reports·2018

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

JIMD reports·2016

Evidence for induction of humoral and cytotoxic immune responses against devil facial tumor disease cells in Tasmanian devils (Sarcophilus harrisii) immunized with killed cell preparations.

Vaccine·2015

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease.

Translational psychiatry·2015

High phylogenetic diversity of the cat flea (Ctenocephalides felis) at two mitochondrial DNA markers.

Medical and veterinary entomology·2014

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation·2026

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung Adenocarcinoma.

Human mutation·2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Human mutation·2026

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

Human mutation·2026

Comparison of US and European belt paths for rearward-facing child restraint systems in frontal-oblique impact sled tests.

Traffic injury prevention·2026

ABO incompatible LRD kidney transplantation should be offered to children: results from a 33-year comparative OPTN study.

Transplant international : official journal of the European Society for Organ Transplantation·2026

Prominent Self-Injurious Behavior Masking the Diagnosis of Rett Syndrome: A Case Report from a Resource-Limited Setting.

Nigerian medical journal : journal of the Nigeria Medical Association·2026

Detection of Occult Patent Ductus Arteriosus Through Teleradiology in a Forward-Deployed Setting.

Military medicine·2026

Clinical outcomes after surgical treatment of open thigh muscular tears in skeletally immature patients.

Journal of pediatric orthopedics. Part B·2026

Beyond the Rash: Simultaneous Bilateral Facial Nerve Palsy Following Childhood Varicella Infection.

Clinical case reports·2026

Related Experiment Videos

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency

Related Concept Videos

Public attitudes towards novel reproductive technologies: a citizens' jury on mitochondrial donation.

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Evidence for induction of humoral and cytotoxic immune responses against devil facial tumor disease cells in Tasmanian devils (Sarcophilus harrisii) immunized with killed cell preparations.

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High phylogenetic diversity of the cat flea (Ctenocephalides felis) at two mitochondrial DNA markers.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

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Prominent Self-Injurious Behavior Masking the Diagnosis of Rett Syndrome: A Case Report from a Resource-Limited Setting.

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A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency

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