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The Journal of Pediatrics, ISSN 0022-3476, 01/2018, Volume 192, p. 129
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 01/2018, Volume 192, pp. 129 - 129
Journal Article
Journal of Pediatrics, ISSN 0022-3476, 01/2018, Volume 192, p. 129
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Hastings Center Report, ISSN 0093-0334, 05/2011, Volume 41, Issue 3, pp. 6 - 7
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Hastings Center Report, ISSN 0093-0334, 05/2011, Volume 41, Issue 3, pp. 6 - 7
Journal Article
Hastings Center Report, ISSN 0093-0334, 2011, Volume 41, Issue 3, pp. 6 - 7
Journal Article
European Journal of Human Genetics : EJHG, ISSN 1018-4813, 05/2014, Volume 22, Issue 5, p. 594
Mucolipidosis (ML) II and ML IIIα/[beta] are allelic autosomal recessive metabolic disorders due to mutations in GNPTAB. The gene encodes the enzyme... 
Enzymes | Phenotypes | Disease | Pathogenesis | Patients | Information sources | Copyright | Mucolipidosis | Missense mutation | Life span | Alleles | Fibroblasts | Genetics | Cathepsin D | Biochemical characteristics | Phosphotransferase | Mutation | Intracellular | Metabolic disorders | Genotypes
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Hastings Center Report, ISSN 1552-146X, 2011, Volume 41, Issue 3, pp. 6 - 7
Journal Article
Theology and Science, ISSN 1474-6700, 11/2011, Volume 9, Issue 4, pp. 435 - 450
After acknowledging that gender is defined at many levels and that definitions may not be concordant across all of these layers of human development, this... 
Intersex | Genitality | Disorder of sex development | Grace | Maldefined (or Ambiguous) Genitalia | Pastoral counseling | Gender | Gentility
Journal Article
Theology and Science, ISSN 1474-6700, 11/2011, Volume 9, Issue 4, pp. 451 - 453
Journal Article
Chest, ISSN 0012-3692, 2013, Volume 144, Issue 3, pp. 794 - 804
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
Human Mutation, ISSN 1059-7794, 04/2016, Volume 37, Issue 4, pp. 354 - 358
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American Journal of Medical Genetics, Part A, ISSN 1552-4825, 06/2006, Volume 140, Issue 12, pp. 1264 - 1266
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European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 5, pp. 594 - 601
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2006, Volume 140A, Issue 12, pp. 1264 - 1266
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