Related Experiment Videos
New type of twin spot
American Journal of Medical Genetics. Part A
|March 4, 2005
Summary
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
The Journal of dermatology·2024
Schnitzler's syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström's disease.
Orphanet journal of rare diseases·2019
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.
The British journal of dermatology·2019
Homeostasis of the sebaceous gland and mechanisms of acne pathogenesis.
The British journal of dermatology·2019
What does acne genetics teach us about disease pathogenesis?
The British journal of dermatology·2019
Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome.
The British journal of dermatology·2018
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.
American journal of medical genetics. Part A·2026
Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes.
American journal of medical genetics. Part A·2026
Prenatal Diagnosis of a Splice-Site Variant in UBA2: Expanding the Clinical Spectrum of UBA2-Related Disease.
American journal of medical genetics. Part A·2026
Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine.
American journal of medical genetics. Part A·2026
An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up.
American journal of medical genetics. Part A·2026
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina.
American journal of medical genetics. Part A·2026
TENG with SMIP nanocatalytic probes for au nanosol SERS/abs quantitative analysis of ultratrace 4-methylimidazole.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026
Albumin Pre-Coating Enhances Intracellular siRNA Delivery of Multifunctional Amphiphile/siRNA Nanoparticles [Retraction].
International journal of nanomedicine·2026
George Martin and Werner's Syndrome.
Cytogenetic and genome research·2026