Results 201 to 210 of about 6,020 (257)

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. [PDF]

J Transl Med
Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y.   +10 more
europepmc   +1 more source

Identification of Potential Drug Targets for Immunoglobulin A Nephropathy: A Mendelian Randomization Study. [PDF]

Biomedicines
Xiong L, Zhang H, Guo Y, Tao Y.
europepmc   +1 more source

P227: High carrier frequency of CYP21A2 hotspot mutations in Southern India: Underscoring the need for genetic testing in congenital adrenal hyperplasia [PDF]

Lavanya Ravichandran, Shriti Paul, A Rekha, Asha HS, Sarah Mathai, Anna Simon, Sumitha Danda, Nihal Thomas, Aaron Chapla   +8 more
openalex   +1 more source

Exploring antigenic variation in autoimmune endocrinopathy. [PDF]

Front Immunol
Mavridou M, Pearce SH.
europepmc   +1 more source

Editorial: Puberty: neurologic and physiologic development, volume II. [PDF]

Front Endocrinol (Lausanne)
Henriques-Neto D, Peralta M, Marques A.
europepmc   +1 more source

Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns [PDF]

J Clin Res Pediatr Endocrinol
Yavaş Abalı Z, Kurnaz E, Güran T.
europepmc   +1 more source

Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report. [PDF]

Cureus
Al Hawsawi K, Qul H, Alkhamesi AA, Fageeh SM.   +3 more
europepmc   +1 more source

Adrenocorticotropic Hormone and 17-Hydroxyprogesterone Levels during High-dose Glucocorticoid Supplement for the Management of Clitoroplasty of CYP21A2 Deficiency

, 2004
Yasuhiro Naiki, Kenji Nanao, Yukihiro Hasegawa   +2 more
openalex   +2 more sources

Maria Iandolo New (1928-2024): Pioneering pediatric endocrinologist. [PDF]

Proc Natl Acad Sci U S A
White PC, Miller WL.
europepmc   +1 more source

Transcriptome analysis of corpora lutea in domestic cats (Felis catus) reveals strong differences in gene expression of various hormones, hormone receptors and regulators across different developmental stages. [PDF]

BMC Genomics
Braun BC, Hryciuk MM, Meneghini D.
europepmc   +1 more source