Results 201 to 210 of about 54,392 (259)

Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester. [PDF]

Prenat Diagn
Liu P, Luo HY, Li DZ.
europepmc   +1 more source

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency. [PDF]

J Inherit Metab Dis
Ribeiro-Constante J, Tangeraas T, García-Cazorla A.   +2 more
europepmc   +1 more source

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion. [PDF]

Ann Med Surg (Lond)
Kachuei M, Eghdami S, Eyvaz-Ziaei S, Tavasoli A, Ghadipasha A.   +4 more
europepmc   +1 more source

Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic <i>CDK5RAP2</i> and <i>CIT</i> variants. [PDF]

Mol Genet Metab Rep
Albokhari D, Almarwani R, Khadawardi E, Saleemi M, Abdulaziz N, Matar K, Zubier M.   +6 more
europepmc   +1 more source

Maternal-fetal transmission of Zika virus and long-term neurodevelopmental outcomes in children: a narrative review. [PDF]

Transl Pediatr
Aljahdali A, Alenzi T, Alammari W, Alshumrani A, Awaji A, Alotaibi M, Alanazi R, Mozayan T, Alotaibi F, Almnaizel A, Al-Khlaiwi T.   +10 more
europepmc   +1 more source

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders. [PDF]

Curr Issues Mol Biol
Shams Nosrati MS, Doustmohammadi M, Dostmohammadi A, Kakavand Hamidi A, Boogari M, Hoseini Tavassol Z, Khosravinejat S, Asgari M, Shafiei M, Nemati AH, Romano F, Capra V, Sterlini B, Darbalaei M, Salehi M, Omrani MD, Zara F, Kibar Z, Miyamoto T, Scala M.   +19 more
europepmc   +1 more source

TMX2-Related Neurodevelopmental Disorder With Bilateral Polymicrogyria and Syndactyly: A Case Report From Morocco. [PDF]

Cureus
Baaziz A, Mdaghri Alaoui A.
europepmc   +1 more source

MANF is essential for astrocyte survival in the monkey brain. [PDF]

Protein Cell
Xing T, Chen L, Duan X, Zhang Y, Qin Y, Lin J, Ruan E, Guo T, Ye C, He J, Xie S, Zhang J, Song X, Huang W, Li B, Yang W, Li S, Li XJ, Yang S.   +18 more
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat. [PDF]

J Clin Lab Anal
Domínguez-Quezada MG, Rivera H, Figuera LE, Barros-Núñez P, Castrillo JL, Córdova-Fletes C, Aguayo-Orozco TA.   +6 more
europepmc   +1 more source