Search
for
Sort by
Research 961–990 of 1000+
- Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
- Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
- Alopecia triangularis congenita in combination with androgenetic alopecia
- Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
- Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
- Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
- Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
- AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
- Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
- Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
- Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)
- DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
- Hereditary, Congenital, and Acquired Alopecias
- Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia
- Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
- A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
- BENEFÍCIOS DO USO DA TOMOGRAFIA COMPUTADORIZADA NO DIAGNÓSTICO DE POSSÍVEL MICROCEFALIA DEVIDO À INFECÇÃO CONGÊNITA PELO ZIKA VÍRUS
- Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
- Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
- 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
- Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in <i>FoxD1</i>-lineage mesenchymal cells leads to congenital truncal alopecia
- [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
- Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ<sup>5</sup>-Δ<sup>4</sup>-lsomerase in Human Adrenals and Gonads
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Molecular and functional aspects of the hairless (<i>hr</i>) gene in laboratory rodents and humans
- Structural abnormalities of the hair shaft
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Critical Developmental Periods for Effects on Male Rat Genitalia Induced by Finasteride, a 5α-Reductase Inhibitor
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia