Fatty-acid-responsive alopecia in multiple carboxylase deficiency

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Lancet (London, England)·2026

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Switch to once-weekly, single-tablet islatravir-lenacapavir from daily standard of care for HIV-1 (ISLEND-2): a multicentre, randomised, open-label, active-controlled, phase 3 non-inferiority trial.

Lancet (London, England)·2026

Ultrasensitive miRNA-21 biosensing: a metal-free photoinduced ROMP strategy via 3'-end oxidation.

Analytical and bioanalytical chemistry·2026

Combining a Respiration-Based Method with Universal qPCR for 3-Day Rapid Sterility Testing.

PDA journal of pharmaceutical science and technology·2026

Comprehensive identification of carboxylic acids by using bromine isotope-based chemical isotope labelling and structure-guided molecular network.

Journal of chromatography. A·2026

Quantitative analysis of vitamin E, 5-methyltetrahydrofolate, and glutathione in seminal plasma by liquid chromatography-tandem mass spectrometry.

Frontiers in chemistry·2026

Plasma Metabolic Features Associated with Developmental Regression in Autism Spectrum Disorder: A Pilot Untargeted Metabolomics Study.

International journal of molecular sciences·2026

Novel Antioxidant Caffeate Esters of Black Locust (Robinia pseudoacacia L.) Stem Bark.

Plants (Basel, Switzerland)·2026

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Fatty-acid-responsive alopecia in multiple carboxylase deficiency

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Switch to once-weekly, single-tablet islatravir-lenacapavir from daily standard of care for HIV-1 (ISLEND-2): a multicentre, randomised, open-label, active-controlled, phase 3 non-inferiority trial.

Ultrasensitive miRNA-21 biosensing: a metal-free photoinduced ROMP strategy via 3'-end oxidation.

Combining a Respiration-Based Method with Universal qPCR for 3-Day Rapid Sterility Testing.

Comprehensive identification of carboxylic acids by using bromine isotope-based chemical isotope labelling and structure-guided molecular network.

Quantitative analysis of vitamin E, 5-methyltetrahydrofolate, and glutathione in seminal plasma by liquid chromatography-tandem mass spectrometry.

Plasma Metabolic Features Associated with Developmental Regression in Autism Spectrum Disorder: A Pilot Untargeted Metabolomics Study.

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Fatty-acid-responsive alopecia in multiple carboxylase deficiency

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