Results 141 to 150 of about 2,863,419 (210)

Growth hormone deficiency in children: divergence between clinical/laboratory evaluation and genetic architecture. [PDF]

J Endocr Soc
Rogol AD.
europepmc   +1 more source

A CONTRIBUTION TO THE GENETIC STUDY OF MENTAL DEFICIENCY [PDF]

BMJ, 1934
openaire   +2 more sources

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases. [PDF]

Int J Neonatal Screen
Meijer NWF, Koop K, Maase RE, Hall PL, Visser WF, Oussoren E, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM.   +8 more
europepmc   +1 more source

A possible founder IRAK4 variant in Okinawa, Japan. [PDF]

J Hum Immun
Tomomasa D, Uehara T, Takayama T, Nishimura M, Wakatsuki R, Yang X, Okada S, Fujimoto A, Kanegane H.   +8 more
europepmc   +1 more source

Delayed Recovery After General Anesthesia due to Undiagnosed Pseudocholinesterase Deficiency: A Case Report. [PDF]

Case Rep Anesthesiol
Tzoneva Tobova D, Uporova M, Dimova II, Mihaylova EG.   +3 more
europepmc   +1 more source

VDR BsmI polymorphism and obesity in vitamin D deficiency among undergraduate students: a cross-sectional study. [PDF]

Mol Biol Rep
Rubio DAV, Albuquerque IC, Berro Pivetta LF, Dos Santos LAFV, Retamoso VR, de Pellegrini HNP, Barbisan F, Frizzo MN, Pesarico AP, da Costa Escobar Piccoli J.   +9 more
europepmc   +1 more source

Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy. [PDF]

J Hum Immun
Puel A, Casanova JL, Béziat V.
europepmc   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source

Genetic context shapes interpretation of AIRE and Notch4 in alopecia areata. [PDF]

JID Innov
Hobbs RP.
europepmc   +1 more source

Experience with early treatment using febuxostat in a patient with adenine phosphoribosyltransferase deficiency after pediatric kidney transplantation: a case report. [PDF]

CEN Case Rep
Aoki Y, Maeda M, Hashimoto J, Zaitsu A, Ueno K, Furukawa S, Ochiai S, Sakurabayashi K, Yonekura T, Itabashi Y, Muramatsu M, Kawamura T, Hamasaki Y, Sakai K.   +13 more
europepmc   +1 more source