Results 141 to 150 of about 12,301 (210)

Application of four-section approach for prenatal diagnosis of Pierre robin sequence. [PDF]

J Med Ultrason (2001)
Li X, Liu L, Yan F, Yang X, Xiu G, Dong X.   +5 more
europepmc   +1 more source

Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features. [PDF]

BMJ Neurol Open
Spicer D, Friend K, Wu B, Chia N, Ghaoui R.   +4 more
europepmc   +1 more source

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy. [PDF]

Congenit Anom (Kyoto)
Nakae K, Hamada S, Kawamura J, Ueno K, Takenouchi T, Okamoto Y.   +5 more
europepmc   +1 more source

Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review. [PDF]

Front Med (Lausanne)
Liu Y, Zhang XY, Hu YY, Wen Y, Bi HS.
europepmc   +1 more source

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation. [PDF]

Int J Mol Sci
Wu YC, Chen CY, Chen GY, Hsiao CH, Chu WC, Huang JY.   +5 more
europepmc   +1 more source

Andersen-Tawil syndrome: visual clues to the diagnosis. [PDF]

Arq Neuropsiquiatr
Férrer JVCC, Guimarães GK, Machado S, Heise CO, Silva AMSD, Zanoteli E.   +5 more
europepmc   +1 more source