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Research 121–150 of 1000+
- [Molecular cloning of full-long cDNA sequences encoding hairless gene in the Kunming mouse].
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- Salt-losing tubulopathy and chronic dermatitis
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- <i>ZmSPL10</i>, <i>ZmSPL14</i> and <i>ZmSPL26</i> act together to promote stigmatic papilla formation in maize through regulating auxin signaling and <i>ZmWOX3A</i> expression
- Uncombable hair in a case of Zellweger syndrome – A new association
- Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
- Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control
- STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
- 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
- A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia
- Genetic Ablation of the <i>CDP/Cux</i> Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
- An essential role for <i>Rxrα</i> in the development of Th2 responses
- Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
- Persistent Hypoglycemia and Macrosomia in a Newborn
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
- Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis