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Research 121–150 of 1000+
- Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
- Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
- Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
- Nonclassic congenital adrenal hyperplasia
- AN OVERVIEW ON POLYCYSTIC OVARIAN SYNDROME
- Monilethrix: the use of tricoscopy in clinical diagnosis
- Epithelial barrier function: assembly and structural features of the cornified cell envelope
- Adrenal causes of endocrine hypertension in childhood or adolescence
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
- 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES
- Is the Loose Anagen Hair Syndrome a Keratin Disorder?
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Disorders of ovulation
- Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
- <i>Ashtanindita</i> <i>Purusha</i> – The Clinical Revelation : A Review
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
- Omenn syndrome in a 10-month-old male with athymia and VACTERL association
- Disease Prevention and Alleviation by Human Myoblast Transplantation
- Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
- Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
- Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
- Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
- An Update of Congenital Adrenal Hyperplasia
- Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
- Molecular basis of androgen insensitivity
- Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly