Results 241 to 250 of about 316,216 (289)

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights. [PDF]

Hum Genome Var
Kido J, Ueno H, Misumi Y, Sugawara K, Saito S, Koshimizu E, Matsumoto N, Ueda M, Nakamura K.   +8 more
europepmc   +1 more source

Homo luzonensis and the role of homoplasy in the morphology of hominin insular species

Cladistics, EarlyView.
Abstract Homo luzonensis lived during the upper Pleistocene in the northern Philippines, east of the Wallace line. The few specimens attributed to this species show a mosaic of plesiomorphies for the genus Homo and apomorphies found in upper Pleistocene Homo species.
Pierre Gousset, Jérémie Bardin, Isabelle Rouget, Armand S. Mijares, Florent Détroit   +4 more
wiley   +1 more source

3M syndrome in Saudi Arabia: a case series study and literature review. [PDF]

Front Endocrinol (Lausanne)
Alhuthil R, Alsagheir A, Almslam M, Raed J, Barakat F, Murad S, Bin-Abbas B.   +6 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report. [PDF]

Cureus
Lin IS, Lee HJ, Chang WN.
europepmc   +1 more source

Unusual cause of post-bariatric non-insulin-mediated hypoglycemia due to adult growth hormone deficiency. [PDF]

Endocrinol Diabetes Metab Case Rep
Hakami AM, Summ MA, Alfagih A, Alhazmi MA, Nami A.   +4 more
europepmc   +1 more source

Diagnostic Value of Peak-to-Basal Difference or Ratio of Growth Hormone in Children with Growth Hormone Deficiency [PDF]

J Clin Res Pediatr Endocrinol
Köprülü Ö, Basa EG, Erbaş İM, Yavuzyılmaz Şimşek F, Nalbantoğlu Ö, Korkmaz HA, Özkan B.   +6 more
europepmc   +1 more source

The burden of extra uterine growth restriction on postnatal growth in very low birth weight preterm newborns. [PDF]

BMC Pediatr
Lucaccioni L, Pietrella E, Malmusi G, Cinelli G, Candia F, Lugli L, Madeo SF, Bruzzi P, Trevisani V, Predieri B, Berardi A, Iughetti L.   +11 more
europepmc   +1 more source

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature. [PDF]

Am J Hum Genet
Jeong R, Covarrubias S, Shanghavi D, Ruhrmund D, Estrada K, Zhou D, Marom N, Bauer CR, Froelich S.   +8 more
europepmc   +1 more source