Results 141 to 150 of about 10,496 (209)

Genetic and clinical features of microcephaly in a prenatal cohort. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Liu H, Yin A, Jiang X, Tang L, Liu S, Qin X, Zhong M, Huang C, Jia B.   +9 more
europepmc   +1 more source

Prenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review. [PDF]

Radiol Case Rep
Aneja K, Krishnan S.
europepmc   +1 more source

Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures. [PDF]

Radiol Case Rep
Barman P, Mishra GV, Murugan G, Priyadarshee P, Wanjari M, Sood A.   +5 more
europepmc   +1 more source

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly. [PDF]

Hum Genome Var
Wakabayashi H, Matsumoto A, Komori S, Goto M, Tajima T, Sasaki A, Matsumura T, Yamagata T.   +7 more
europepmc   +1 more source

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the gene [PDF]

core   +1 more source

Alobar Holoprosencephaly in a Newborn: A Case Report of Prenatal Diagnosis and a Review of the Literature. [PDF]

Cureus
Chafiq K, Toumi K, Khayi FE, Daoudi A.
europepmc   +1 more source

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation. [PDF]

J Clin Med
Kong MD, Sylla MM, Oh JK, Dedania VS, Soucy M, Demirkol A, Brodie SE, Maumenee IH, Tsang SH.   +8 more
europepmc   +1 more source

Is first trimester screening an opportunity for early diagnosis of structural anomalies?: A retrospective cohort study. [PDF]

J Turk Ger Gynecol Assoc
Kutlu Dilek TU, Kaya E, Aygün E, Pata Ö.   +3 more
europepmc   +1 more source

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report. [PDF]

Case Rep Pediatr
Saul R, David M, Frasch J, Sanchez-Lara PA, Schweiger BM.   +4 more
europepmc   +1 more source

Association between maternal occupation as a cleaner/maid/janitor during early pregnancy and selected birth defects in the National Birth Defects Prevention Study. [PDF]

Occup Environ Med
Yang Y, Herdt ML, Hosler AS, Desrosiers TA, Howley MM.   +4 more
europepmc   +1 more source