Results 131 to 140 of about 18,979 (200)

<i>MGRN1</i> is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans. [PDF]

J Med Genet
Kasak L, Rull K, Valkna A, Laan M.
europepmc   +1 more source

From Gastrulation to Malformation: Understanding the Embryology of Split Cord Malformations for Obstetric Practice.

Fetal Diagn Ther
Albayrak N, Nejat CA.
europepmc   +1 more source

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +1 more source

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Prenatal sonographic features and outcome of in utero resolution of the anterior urethral valve in one of the twin. [PDF]

Urol Case Rep
Liu RM, Kong ZY, Ding YY, Gao CF, Zhang CX, Yuan J.   +5 more
europepmc   +1 more source

Galen vein malformation-intrauterine treatment. [PDF]

Childs Nerv Syst
Cavalheiro S, da Costa MDS, Nôvo PC, Frudit ME, Suzuki FS, Barbosa MM, Dastoli PA, Sarmento SGP, Suriano ÍC, Moron AF.   +9 more
europepmc   +1 more source

Prenatal diagnosis to postnatal outcomes in multicystic dysplastic kidney: experience of a tertiary center in the Black Sea region. [PDF]

Rev Assoc Med Bras (1992)
Ünver G, Serin S, Tosun M, Çelik H, Önal M, Abur Ü, Altundağ E.   +6 more
europepmc   +1 more source

[Prenatal ultrasonography and Down's syndrome].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1991
openaire   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +1 more source