Results 91 to 100 of about 4,194 (161)

A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type. [PDF]

Ital J Pediatr
Dong Y, Pei S, Yang Z, Xue Y, Wang H.
europepmc   +1 more source

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study. [PDF]

Medicina (Kaunas)
Jurca AD, Petchesi CD, Jurca S, Severin E, Jurca AA, Jurca CM.   +5 more
europepmc   +1 more source

Central precocious puberty associated with duplicated pituitary: a case report and literature review. [PDF]

Front Endocrinol (Lausanne)
Yang K, Sang Y, Dai L, Wang W.
europepmc   +1 more source

Case report: neuroimaging in Cockayne syndrome. [PDF]

Radiol Case Rep
Mittal S, Jain KK, Arora S, Jajodia N.
europepmc   +1 more source

Case Report: A <i>de novo NSD2</i> multiple exon deletion variant in a child with Rauch-Steindl syndrome. [PDF]

Front Pediatr
Li C, Xie M, Peng Q, Lu X, Zhong B.
europepmc   +1 more source

Morphological changes and lateralization of the thalamic nuclei in children with growth hormone deficiency. [PDF]

Front Endocrinol (Lausanne)
Lee JY, Lim SM, Oh JH, Kim H, Lee GY, Lee BG, Hoh JK, Yang S, Lee HJ.   +8 more
europepmc   +1 more source

Therapeutic efficacy of recombinant human growth hormone in children with different etiologies of dwarfism from a pharmacoeconomic point of view. [PDF]

Medicine (Baltimore)
Ma Y, Sheng J, Wang L, Zhang Y, Liu L.
europepmc   +1 more source

Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvement. [PDF]

J Med Genet
D'Abrusco F, Gana S, Alfei E, Scarano E, Nicita F, Bertini ES, Digilio MC, Zanni G, Barbuti D, Carlicchi E, Pichiecchio A, D'Arrigo S, Serpieri V, Valente EM.   +13 more
europepmc   +1 more source

Validation of Peak Growth Hormone Levels After Clonidine and Glucagon Stimulation Tests in Children With Severe Short Stature. [PDF]

Cureus
Subbiah S, Raja R, Shanmugam D, Palaniappan S, Shanmugam S, Aravind Kumar M.   +5 more
europepmc   +1 more source

Management of hypopituitarism during pregnancy in patients with PROP1-related combined pituitary hormone deficiency: Review of the literature with a case report. [PDF]

Pituitary
Pigni S, Marsan G, Caputo M, Mele C, Iftimie ME, Rossi G, Pasin R, Marzullo P, Aimaretti G, Prodam F.   +9 more
europepmc   +1 more source