Results 151 to 160 of about 11,012 (235)

Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report. [PDF]

J Yeungnam Med Sci
Jung JH, Jeong J, Kim SH.
europepmc   +1 more source

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

Clinical Genetics, 2016
C. Mouden, C. Dubourg, W. Carré, S. Rose, C. Quélin, Linda Akloul, Houda Hamdi-Rozé, G. Viot, H. Salhi, P. Darnault, Sylvie S. Odent, V. Dupé, Véronique David   +12 more
semanticscholar   +1 more source

Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report. [PDF]

AJOG Glob Rep
Minchola-Vega JL, Zamora-Mostacero VE, Lazarte-Rantes CI.   +2 more
europepmc   +1 more source

Cyclopia, A Rare and Lethal Congenital Anomaly: Report of Two Cases, 2025. [PDF]

Int Med Case Rep J
Tesfai B, Gebremariam H, Gebrezgabhier AA, Frezgi O.   +3 more
europepmc   +1 more source

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome. [PDF]

Children (Basel)
Cieślińska K, Karbowska K, Zaborowicz K, Biedziak B.   +3 more
europepmc   +1 more source

The Rise of Regulatogens: A Crisis of Insouciance and Dilettantism in the Regulatory DART World-And How We Must Fix It. [PDF]

Birth Defects Res
DeSesso JM.
europepmc   +1 more source

Correction to "Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies". [PDF]

Prenat Diagn
europepmc   +1 more source

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases. [PDF]

Mol Genet Genomic Med
Li YF, Zhang SH, Zhen L, Zhang LZ.
europepmc   +1 more source

Centriolar protein PIBF1 is required for craniofacial and forebrain development. [PDF]

Dev Biol
Pimentel L, Ha S, Yang Y, Cochran K, Chang CF, Houghtaling S, Gombart SK, Beier DR, Brugmann SA.   +8 more
europepmc   +1 more source