Results 81 to 90 of about 31,423 (169)

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source

A Case of Pallister-Killian Syndrome in a Newborn. [PDF]

Case Rep Genet
Di Donato G, Cauzzo C, Cicioni P, Topazio T, Chiavaroli V, Volo CPB, Morizio E, Chiarelli F, Valerio SD.   +8 more
europepmc   +1 more source

Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism. [PDF]

Mol Cytogenet
Dittrich T, Wenzel R, Beck A, Dahlum S, Siebert R, Friebe-Hoffmann U, Bens S.   +6 more
europepmc   +1 more source

Morphogen Gradients as Drivers of Mosaicism During Early Human Development. [PDF]

Bioessays
Acebrón SP, Hattemer J, Rausch T, De Jaime-Soguero A.   +3 more
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

Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature. [PDF]

Hered Cancer Clin Pract
Dwarte TM, Alli R, Srinivasa S, Noon F, Perera Kimmantudawage S, Gordon L, Beshay V, Joshua AM, Ruiz Araujo R, Jalilian C, Thomas DM, Smith MJ, Winship I, Ballinger ML, Li M, Tucker KM, Courtney EK.   +16 more
europepmc   +1 more source

Trisomy 9 mosaicism: a genetic disorder with complications-a case report. [PDF]

J Med Case Rep
Ajour M, Bryant D, McKnight B, Hayslett A.   +3 more
europepmc   +1 more source

Decoding the Cutaneous Jigsaw: Understanding the Patho-mechanisms of Cutaneous Mosaicism. [PDF]

Indian Dermatol Online J
Prasanna S, Singh S, Bhoite K.
europepmc   +1 more source

Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Szlek C, Punukollu P, Grater L, Ware D, Devoe L, Schlabritz-Lutsevich N, David H, Toussaint W, Maher J.   +8 more
europepmc   +1 more source

Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the <i>HSD17B10</i> gene: case report. [PDF]

AME Case Rep
Khodawrdi A, Mekki C, Lunati-Rozie A, Funalot B.   +3 more
europepmc   +1 more source