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Prenatal Diagnosis|July 12, 2011
Prenatal features of Noonan syndrome: prevalence and prognostic valueG Baldassarre, A Mussa, A Dotta, et al.Human Molecular Genetics|July 1, 1993
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regionsM C Wapenaar, M T Bassi, L Schaefer, et al.Journal of Medical Genetics|October 1, 1996
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindredJ J MacKenzie, J Fitzpatrick, P Babyn, et al.Clinical Genetics|January 23, 2010
Eyebrow anomalies as a diagnostic sign of genomic disordersM Silengo, E Belligni, C Molinatto, et al.Minerva Pediatrica|April 14, 2011
A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 geneA G Delmonaco, E Gaidolfi, G C Scheper, et al.American Journal of Medical Genetics|January 15, 1994
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterizationE A Lindsay, A Grillo, G B Ferrero, et al.Frontiers in Pediatrics|May 4, 2023
Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndromeB Ciacchini, G Di Nardo, M Marin, et al.American Journal of Human Genetics|August 1, 1997
A submicroscopic deletion in Xq26 associated with familial situs ambiguusG B Ferrero, M Gebbia, G Pilia, et al.Genomics|March 20, 1995
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)I Wang, B Franco, G B Ferrero, et al.Nature Genetics|November 14, 1997
X-linked situs abnormalities result from mutations in ZIC3M Gebbia, G B Ferrero, G Pilia, et al.Pageof 3