Results 171 to 180 of about 17,949 (246)

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis. [PDF]

Prenat Diagn
Botvinik A, Glasner VO, Reches A, Miremberg H, Haratz KK, Brill T, Malki L, Rozenzwaig M, Yaron Y, Levy M.   +9 more
europepmc   +1 more source

A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders. [PDF]

Ital J Pediatr
Salah S, Mobarak A, Alshanbari SN, Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM.   +6 more
europepmc   +1 more source

Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV. [PDF]

BMC Pregnancy Childbirth
Zhang X, Liu X, Duan L, Liu X, Chen Y, Feng X, Wang C.   +6 more
europepmc   +1 more source

Description of a Large Family with Periodic Fever Carrying a Variant in RXFP1 Gene: A Possible Novel Modulator of Inflammation in Autoinflammatory Diseases. [PDF]

Int J Mol Sci
Buttarelli M, Rapari G, Riccio M, Manna R, Rigante D, Sangiorgi E.   +5 more
europepmc   +1 more source

Discordant fetal anomalies in monochorionic multiple pregnancies. [PDF]

Med Genet
Schuligoi H, Juch H, Klaritsch P.
europepmc   +1 more source

Familial lupus associated with a <i>P2RY8</i> variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus. [PDF]

J Hum Immun
David C, Welfringer-Morin A, Seabra L, Crow YJ, Jachiet M, Frémond ML.   +5 more
europepmc   +1 more source

Bacterial and Fungal Communities in Old Vines and Their Progeny: Insights into Microbial Inheritance Through Mass Selection. [PDF]

Microorganisms
Lemichez S, Bernard M, Chable V.
europepmc   +1 more source

Angiotensin-converting enzyme insertion/deletion genotype (rs4646994) association with increased risk of stroke: a case-control study in Eastern Iran. [PDF]

BMC Neurol
MiriMoghaddam S, Vafaeie F, Bizhaem SK, Yousefi-Roobiyat M, Miri-Moghaddam E.   +4 more
europepmc   +1 more source

Cornea Arcus and Dyslipidemia in Unrelated Adults With Monoallelic Germline Variants in the <i>Glucokinase Regulator</i> Gene. [PDF]

Clin Med Insights Endocrinol Diabetes
Olarewaju BA, Trujillo I, Osundiji MA.
europepmc   +1 more source