Search
for
Sort by
Research 151–180 of 163
- Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
- Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
- Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- E-Poster
- Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
- Commonly associated disorders with complete scalp alopecia in early childhood: A review
- Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
- Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Partial biotinidase deficiency: Clinical and biochemical features
- BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION
- Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
- Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- A Rare Case of Biotinidase Deficiancy
- Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Biotinidase deficiency: a survey of 10 cases.
- Late presentation of biotinidase deficiency with acute visual loss and gait disturbance