research A Proposal from Steven C. Chang, MD
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research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research 10.1063/5.0132123.1
research Message from the Program Chair of the 2007 Annual Scientific Meeting
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research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Anti-DFS70 sebagai Penanda Kejadian Autoimun Nonsistemik (Primary Billiar Cholangitis) pada Systemic Lupus Erythematosus
Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
research 710 BIOMARKERS OF SUNITNIB CLINICAL RESPONSE IN METASTATIC RENAL CLEAR CELL CARCINOMA PATIENTS
research Біотехнологічне тестування за допомогою найпростіших
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research Skin and mucosal alterations
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research Message from the 2017 Surgical Assistants Chair
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research Message from the 2017 Surgical Assistants Program Chair
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research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Letter: Repair of severed brachial plexus.
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research Insight into the pathogensis of polycystic ovarian syndrome
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research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Integrated Business Intelligent System for E-Health: A Case for Dermatology Diseases
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research Editor's notes
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research Donor removal–sterile technique
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research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Single‐center study to determine the safety and efficacy of CT‐707 in Chinese patients with advanced anaplastic lymphoma kinase‐rearranged non‐small‐cell lung cancer
CT-707 is effective and safe for treating certain Chinese lung cancer patients.
research Kožne manifestacije endokrinih poremećaja
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research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research 257 Is EBF1 a negative regulator of WNT10A in the development of androgenetic alopecia?
Finasteride helps female-pattern hair loss.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Gestational safety: No time for a pregnant pause
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research Editor's notes
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research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.