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American Journal of Medical Genetics. Part A|October 30, 2013
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984Giovanni Neri, Maria Enrica Martini-Neri, Ben E Katz, et al.The Journal of Pediatrics|August 14, 2021
Neonatal Reference Intervals for the Complete Blood Count Parameters MicroR and HYPO-He: Sensitivity Beyond the Red Cell Indices for Identifying Microcytic and Hypochromic DisordersTimothy M Bahr, Thomas R Christensen, Erick Henry, et al.Blood Cells, Molecules & Diseases|March 31, 2018
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutationsJessica A Meznarich, Lauren Draper, Robert D Christensen, et al.American Journal of Medical Genetics. Part A|June 25, 2004
Perrault syndrome: evidence for progressive nervous system involvementAgata Fiumara, Giovanni Sorge, Antonio Toscano, et al.American Journal of Medical Genetics. Part A|December 21, 2002
Documentation of anomalies not previously described in Fryns syndromeSonya Rae Arnold, Diane Debich-Spicer D, John M Opitz, et al.Fetal and Pediatric Pathology|June 10, 2006
Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?Enid Gilbert-Barness, Roelof-Jan Oostra, Archana Agarwal, et al.Clinical Dysmorphology|December 10, 2009
'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)Louise Harewood, Jean W Keeling, Judith A Fantes, et al.American Journal of Medical Genetics. Part A|April 27, 2004
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hairKlaus W Kjaer, Lars Hansen, Hans Eiberg, et al.American Journal of Medical Genetics. Part A|July 29, 2003
Splenogonadal fusion-limb defect "syndrome" and associated malformationsFiona McPherson, Jaime L Frias, Diane Spicer, et al.Fetal and Pediatric Pathology|January 7, 2006
Prenatal death in Fraser syndromeJessica M Comstock, Angelica R Putnam, John M Opitz, et al.Pageof 11