Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis

First Report of Phytophthora sansomeana Causing Wilting and Stunting on Corn in Ohio.

Plant disease·2019

Uptake and virological outcomes of single- versus multi-tablet antiretroviral regimens among treatment-naïve youth in the HIV Research Network.

HIV medicine·2018

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.

Molecular genetics and metabolism reports·2017

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

Molecular genetics and metabolism·2015

Thirty-day hospital readmissions for adults with and without HIV infection.

HIV medicine·2015

A metamolecule antenna for coplanar waveguides.

Optics express·2015

Microblading Technique for Tattooing of "Hairstrokes" That Simulate Natural Hair: Eyebrow Tattooing and Correction of Medical Conditions.

Current problems in dermatology·2023

On the Use, Effectiveness, and Safety of Face Masks, Gloves, and Disinfectants to Prevent Transfer of Microbials between the Tattooist and the Customer: A Practical Review of Pros and Cons Including the Occupational Safety of the Tattooist.

Current problems in dermatology·2023

Linearity and Surface Anatomy of the Face: From Embryo to Senescence.

Current problems in dermatology·2023

Stretch Mark Treatment by Tattooing and Microneedling.

Current problems in dermatology·2023

Auxiliary Utensils in Cosmetic and Medical Tattoo Settings.

Current problems in dermatology·2023

Areola and Nipple Reconstruction in Breast Cancer and Other Conditions.

Current problems in dermatology·2023

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Frontiers in genetics·2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Frontiers in pediatrics·2026

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology·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

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Seizure·2026

Related Experiment Videos

Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis

Related Concept Videos

First Report of Phytophthora sansomeana Causing Wilting and Stunting on Corn in Ohio.

Uptake and virological outcomes of single- versus multi-tablet antiretroviral regimens among treatment-naïve youth in the HIV Research Network.

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.

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Thirty-day hospital readmissions for adults with and without HIV infection.

A metamolecule antenna for coplanar waveguides.

Microblading Technique for Tattooing of "Hairstrokes" That Simulate Natural Hair: Eyebrow Tattooing and Correction of Medical Conditions.

On the Use, Effectiveness, and Safety of Face Masks, Gloves, and Disinfectants to Prevent Transfer of Microbials between the Tattooist and the Customer: A Practical Review of Pros and Cons Including the Occupational Safety of the Tattooist.

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Stretch Mark Treatment by Tattooing and Microneedling.

Auxiliary Utensils in Cosmetic and Medical Tattoo Settings.

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Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

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Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis

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