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American Journal of Medical Genetics, ISSN 0148-7299, 12/1988, Volume 31, Issue 4, pp. 887 - 901
We describe a 19‐year‐old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial “coarseness,” corneal... 
β‐galactosidase | dysostosis multiplex | α‐neuraminidase | spondyloepiphyseal displasia | Neuraminidase - deficiency | Sialic Acids - urine | Galactosidases - deficiency | Humans | Skin - ultrastructure | Adult | Male | Lymphocytes - ultrastructure | Bone and Bones - abnormalities | N-Acetylneuraminic Acid | beta-Galactosidase - deficiency
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 11/1988, Volume 31, Issue 3, pp. 655 - 661
We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for... 
gene assignment | enzyme activity | chromosome aberration | Chromosome Deletion | Chromosomes, Human, Pair 7 - ultrastructure | DNA Probes | Glucuronidase - genetics | Cystic Fibrosis - genetics | Humans | Karyotyping | Glucuronidase - metabolism | Female | Infant | Chromosome Mapping
Journal Article
Fetal & Pediatric Pathology, ISSN 1551-3815, 1991, Volume 11, Issue 3, pp. 487 - 491
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 11/1999, Volume 8, Issue 12, p. 2311
  Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor CBFA1. To... 
Journal Article
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 04/2006, Volume 28, Issue 4, pp. 324 - 332
Objective: To give recommendations to physicians and midwives providing pre-conception or prenatal care about carrier screening for genetic disorders in... 
Canavan disease | familial dysautonomia | Ashkenazi Jews | Tay-Sachs disease | Carrier Screening | Familial dysautonomia | Pregnancy | Genetic Predisposition to Disease | Genetic Testing | Humans | Prenatal Diagnosis | Female | Tay-Sachs Disease - genetics | Jews - genetics
Journal Article
Journal Article
Journal of Obstetrics and Gynaecology Canada (JOGC), ISSN 1701-2163, 2007, Volume 29, Issue 10, pp. 835 - 840
Abstract Background Virilization in female newborns typically results from congenital adrenal hyperplasia, requiring immediate diagnosis and treatment. We... 
Obstetrics and Gynecology | Luteoma | ambiguous genitalia | androgens | virilization | pregnancy | Pregnancy | Virilization | Androgens | Ambiguous genitalia | Pregnancy Complications, Neoplastic - diagnosis | Luteoma - blood | Ovarian Neoplasms - diagnosis | Humans | Ovarian Neoplasms - blood | Adult | Female | Virilism - blood | Luteoma - diagnosis | Testosterone - blood | Infant, Newborn
Journal Article
Journal of Obstetrics and Gynaecology Canada (JOGC), ISSN 1701-2163, 2008, Volume 30, Issue 9, pp. 842 - 846
Résumé Objectif Offrir aux médecins de famille, aux conseillers génétiques, aux généticiens médicaux, aux sages-femmes et aux obstétriciens-gynécologues du... 
Obstetrics and Gynecology | mental retardation | premature ovarian failure | fragile X syndrome | Carrier screening
Journal Article
Journal of Obstetrics and Gynaecology Canada (JOGC), ISSN 1701-2163, 2011, Volume 33, Issue 7, pp. 736 - 750
Journal Article