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Research 331–360 of 1000+
- Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
- 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Congenital Adrenal Hyperplasia
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- 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
- Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
- Congenital atrichia associated with nevus flammeus: A rare association
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Inherited Epidermolysis Bullosa: A Clinical Case
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
- Monilethrix: A rare hereditary condition
- Mixed Form of Hirsutism in Adolescent Females and Laser Therapy
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
- Cantú Syndrome Is Caused by Mutations in ABCC9
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
- Difficult and rare forms of acne
- Genetics of Alopecia
- Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors