Results 201 to 210 of about 36,492 (239)

Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review. [PDF]

Front Genet
Dukuze N, Hitayezu J, Uyisenga JP, Hakizimana O, Bours V, Uwineza A, Alagbonsi AI.   +6 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of Anauxetic Dysplasia Type 3: Reporting an Iranian Family With Unique Systemic Features and <i>NEPRO</i> Gene Variant. [PDF]

Clin Case Rep
Kian MM, Sheikholeslami S, Feizabadi MK, Roshanaeizadeh AM, Haghi A, Chaleshtori ARS, Moazzeni HR.   +6 more
europepmc   +1 more source

Sensorial function in children with congenital Zika syndrome: what is the relationship with motor function? [PDF]

Rev Paul Pediatr
Brito ASS, Meira CAC, Moreira KMA, Santino TA, Tavares JS, Gama GL, Melo A.   +6 more
europepmc   +1 more source

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Mutant deoxynucleotide carrier is associated with congenital microcephaly

Nature Genetics, 2002
The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania.
ROSENBERG M. J., AGARWALA R., BOUFFARD G., DAVIS J., HILLIARD M. S., KOCH T., KALIKIN L. M., MAKALOWSKA I., MORTON D. H., PETTY E. M., WEBER J. L., PALMIERI F., KELLEY R. I., SCHAFFER A. A., BIESECKER L. G., FIERMONTE, Giuseppe   +15 more
openaire   +4 more sources

Dominantly inherited syndrome of microcephaly and congenital lymphedema

Clinical Genetics, 1985
A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.
Alexander K C Leung
openaire   +4 more sources

Molecular Genetic Analysis of Newborns with Congenital Microcephaly

Neonatology, 2022
<b><i>Introduction:</i></b> Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene <i>ASPM</i> in China remains unknown. <b><i>Methods:</i></b> Sixty-one neonates with CM who were hospitalized in the ...
Chang Ye, Hongfang Mei, Huiyao Chen, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Wenhao Zhou, Lin Yang   +10 more
openaire   +2 more sources

Severe Microcephaly Associated with Congenital Varicella Infection

Developmental Medicine & Child Neurology, 1991
SUMMARYA case of second‐trimester congenital varicella infection, in association with isolated microcephaly and severe brain damage, is reported, and cases of classical congenital varicella syndrome are compared on a clinical and immunological basis. This case, together with others cited in the literature, suggests that congenital varicella infection ...
I E, Scheffer, M, Baraitser, E M, Brett
openaire   +2 more sources