Results 291 to 300 of about 90,161 (348)

Environmental causes of human congenital malformations: The physician\u27s role in dealing with these complex clinical problems caused by environmental and genetic factors. [PDF]

, 2008
Brent, Robert L
core   +1 more source

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

, 2022
Sara Carvalhal, Ingrid Bader, Martin A. Rooimans, Anneke B. Oostra, Jesper A. Balk, René G. Feichtinger, Christine Beichler, Michael R. Speicher, Johanna M. van Hagen, Quinten Waisfisz, Mieke M. van Haelst, Martijn Bruijn, Alexandra Tavares, Johannes A. Mayr, Rob M.F. Wolthuis, Raquel A. Oliveira, Job de Lange   +16 more
openalex   +1 more source

1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis. [PDF]

Case Rep Pediatr
Lakatošová S, Miklošovičová M, Konečný M, Wachsmannová L, Krasňanská G, Kopčíková M, Keményová P, Tomka M, Lisyová J, Ostatníková D, Repiská G.   +10 more
europepmc   +1 more source

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]

Oxf Med Case Reports
Balaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc   +1 more source

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly. [PDF]

Clin Genet
D'Alessio AM, Torella A, Morleo M, Nigro V, TUDP Study Group, Brunetti-Pierri N.   +5 more
europepmc   +1 more source

Relative and attributable risks of neurological and perinatal adverse outcomes among children with and without prenatal Zika virus exposure in Northeast Brazil: A prospective cohort study (2015-2018). [PDF]

PLoS Negl Trop Dis
Fontes JMSSA, Miranda-Filho DB, Montarroyos UR, de Araújo TVB, Turchi Martelli CM, Rodrigues LC, Brickley E, de Albuquerque MFPM, Souza WV, Ventura LMVO, Ventura CVO, Gois AL, Gouveia MCL, Oliveira DMDS, Eickmann SH, Carvalho MDCG, da Silva PFS, Rocha MÂW, Ramos RCF, Brandão-Filho SP, Cordeiro MT, Bezerra LCA, Dimech GS, Alves SV, Ferreira Neto PP, Castanha PMDS, Dhalia R, Marques ETA, Fulco GRN, Silva MVM, Ximenes RAA, Microcephaly Epidemic Research Group (MERG).   +31 more
europepmc   +1 more source

Orofacial myofunctional and anthropometric characteristics of children with and without microcephaly: a case-control study. [PDF]

J Appl Oral Sci
Medeiros AMC, Nobre GRD, Rezende GDES, Barreto ÍDC, Cardenas JEV, Nascimento SCS, Matos ALDS, Pereira ASM, Gurgel RQ, Berretin-Felix G.   +9 more
europepmc   +1 more source

Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report. [PDF]

J Surg Case Rep
Alsharef FK, Alraddadi KK, Aljared T.
europepmc   +1 more source

Rare Presentation of Homozygous S<i>LC20A2</i> Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature. [PDF]

Case Rep Genet
Baker L, Hadid F, Irshaidat SS, Altaraqji S, Benini R, Thabet F, Al Shami R, Kayyali H, Al Saleh R, Ben Omran T, Al Rayyahi J, El Beltagi A, Baha Juma, Ibrahim K.   +13 more
europepmc   +1 more source