Results 121 to 130 of about 4,412 (188)

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. [PDF]

Genet Sel Evol
Jacinto J, Letko A, Gentile A, Otter A, Floyd T, Collins R, Richey M, Carty H, Scholes S, Jones A, Fuller H, Häfliger IM, Strugnell B, Studer E, Benazzi C, Bolcato M, Starič J, Diana A, Weber J, Freick M, Lühken G, Tammen I, Kraft DCE, Lindgren CM, Sickinger M, Soto S, O'Rourke BA, Agerholm JS, Drögemüller C.   +28 more
europepmc   +1 more source

Growth hormone in disease and treatment (Review). [PDF]

Med Int (Lond)
Fakir S, Sarker MMR, Sigdel M, Barabutis N.   +3 more
europepmc   +1 more source

Primary cilia and BBS4 are required for postnatal pituitary development. [PDF]

Dev Biol
Brewer KM, Brewer KK, Richardson NC, Reiter JF, Berbari NF, Konjikusic MJ.   +5 more
europepmc   +1 more source

Identification of <i>POU1F1</i> Variants in Vietnamese Patients with Combined Pituitary Hormone Deficiency. [PDF]

Int J Mol Sci
Nguyen HT, Nguyen KN, Dien TM, Can TBN, Nguyen TTN, Lien NTK, Tung NV, Xuan NT, Tao NT, Nguyen NL, Tran VK, Mai TTC, Tran VA, Nguyen HH, Vu CD.   +14 more
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

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

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

Case report: neuroimaging in Cockayne syndrome. [PDF]

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