Results 91 to 100 of about 12,084,964 (131)

Prenatally Diagnosed Proximal Femoral Focal Deficiency: A Report of Two Cases. [PDF]

Int Med Case Rep J
Asfaw TG, Dina BK, Wube YT, Omer NM, Deme TL.   +4 more
europepmc   +1 more source

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]

Int J Mol Sci
Robles-Espinoza K, Esparza-García E, González García JR, Magaña-Torres MT.   +3 more
europepmc   +1 more source

Xylosyltransferase-I serum activity is a promising biomarker for postmenopausal osteoporosis. [PDF]

Sci Rep
Witt A, De Martinis M, Kühle M, Schmidt V, Aitella E, Knabbe C, Faust-Hinse I.   +6 more
europepmc   +1 more source

Hypophosphatasia: 90 Years from a Canadian Discovery-A Comprehensive Review of the <i>ALPL</i> Gene Underlying Rathbun's Syndrome. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis. [PDF]

Proteomes
Palollathil A, Mahin A, Perunelly Gopalakrishnan A, Poojari TR, Sambreena A, Basthikoppa Shivamurthy P, Raju R.   +6 more
europepmc   +1 more source

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

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases. [PDF]

Front Genet
Yu D, Feng D, Qu J, Nie L, Liu Q, Gao L, An W, Liu N, Fang Y.   +8 more
europepmc   +1 more source

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype

Yates TM, Hunt SE, Lemos D, Pericherla SR, Uhalte EC, Ansari M, Thompson L, Doneva SE, Wright CF, Firth HV, Simpson TI.   +10 more
europepmc   +1 more source

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature. [PDF]

World J Diabetes
Wang K, Zheng J, Gu LC, Li RR, Su XD, Bai J, Liao L.   +6 more
europepmc   +1 more source

Case Report: Holistic approach to management of an infant with severe osteogenesis imperfecta in the neonatal intensive care unit. [PDF]

Front Pediatr
Timila D, Mousa A, Gundamraj L.
europepmc   +1 more source