Results 81 to 90 of about 40,078 (160)

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family. [PDF]

BMC Med Genet, 2018
Li J, Xie H, Jiang Y.
europepmc   +1 more source

Humeroradioulnar Synostosis in a Patient with Underlying Congenital Scoliosis: A Case Report. [PDF]

J Orthop Case Rep
Small T, Kahwaty S, Stall A.
europepmc   +1 more source

Sex-Dependent Prevalence of Sagittal Skeletal, Dental Malocclusions in Romanian Orthodontic Patients: An Observational Study. [PDF]

J Clin Med
Negruțiu BM, Todor BI, Costea CP, Iurcov ROC, Vaida LL, Lucan AI, Gârboan RL, Pusta CJ, Rus M, Staniș CE.   +9 more
europepmc   +1 more source

A rare cause of neonatal respiratory distress: Jeune syndrome. [PDF]

Radiol Case Rep
El Aouadi S, Bahha S, Taibi O, Bouanane R, Allali N, Chat L, El Haddad S.   +6 more
europepmc   +1 more source

Vertebral Cervical Fusion in Individuals with and without Open Bite: A Comparative Matched Study. [PDF]

J Clin Exp Dent
Angeles-Estrella L, Llaguno-Rubio JM, Fiori-Chincaro GA, Arriola-Guillén LE.   +3 more
europepmc   +1 more source

<i>SRSF1</i> haploinsufficiency drives the neurodevelopmental phenotype of the 17q22 deletion syndrome. [PDF]

Front Med (Lausanne)
Wu Y, Gao C, Chen Z, Liu F, Yuan J, Cheng W.   +5 more
europepmc   +1 more source

Skeletal anomalies induced by Verapamil in rats

Annual Meeting of the Japanese Society of Toxicology, 2012
MURATA, Yuto, SEBORI, Rio, KATSUMATA, Hiroaki, HORIMOTO, Masao   +3 more
openaire   +1 more source

Prenatal diagnosis and genetic counseling of a <i>de novo</i> 16q24.3 microdeletion in a Chinese family. [PDF]

J Int Med Res
Wu W, Zuo Y, Jin J.
europepmc   +1 more source

Unmasking Turner Syndrome Via a Short Fourth Metacarpal in a Pediatric Wrist Injury. [PDF]

J Pediatr Clin Pract
O'Grady A, Ruiz MA, Staunton D, O'Grady P.   +3 more
europepmc   +1 more source

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort. [PDF]

Genet Med
Matalon DR, Duker AL, Arriaga TM, Russell K, Mendez HR, Bonner DE, Harley ME, Singer-Berk M, Wojcik MH, Pais L, DiTroia S, O'Leary M, Cassini T, Ezell K, Niehaus AD, Kaplan J, Wargowski DS, Smid CJ, Longenecker ED, Rodriguez Barreto AM, Miller DE, Keefe AC, Calderwood L, Enns GM, Tekin M, Bivona SA, Vora NL, Gilmore KL, Khan TN, Davis EE, Wang AW, Khan S, Maddirevula S, Al Abdi L, Abuyousef O, Shamseldin HE, Alkhalifi S, Abdulwahab F, Alqahtani M, Alhumaidi ZA, Nadeef S, Al Hashem AM, Bakur K, Faqeih EA, Abdalla E, Clarke A, Fletcher E, Keng WT, Ousager LB, de Silva DC, Haniffa M, Mari F, Lam W, Campbell J, Homfray T, Nampoothiri S, Li C, Chaudhari BP, Truxal K, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network, Bernstein JA, Montgomery SB, Wheeler MT, Alkuraya FS, O'Donnell-Luria A, Jackson AP, Campbell IM, Ganesh VS, Robertson N, Lemire G.   +70 more
europepmc   +1 more source