Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations? von Ludman, Mark D., Philipsborn, Shira Litz, Hartmajer, Shulamit, Shwartzman, Nitzan Sharon, Reinstein, Eyal

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The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients von Bernstein-Molho, Rinat, Barnes-Kedar, Inbal, Ludman, Mark D., Reznik, Gili, Feldman, Hagit Baris, Samra, Nadra Nasser, Eilat, Avital, Peretz, Tamar, Peretz, Lilach Peled, Shapira, Tamar, Magal, Nurit, Kalis, Marina Lifshitc, Yerushalmi, Rinat, Vinkler, Chana, Liberman, Sari, Basel-Salmon, Lina, Shohat, Mordechai, Levy-Lahad, Ephrat, Friedman, Eitan, Bazak, Lily, Goldberg, Yael

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Hereditary Breast Ovarian Cancer Syndromes in the Maritimes von O’Quinn, Candace, BScKin, Steele, Patricia, MSc, CCGC, CGC, Ludman, Mark D., MD, FRCPC, FCCMG, Kieser, Katharina, MD, MSc, FRCSC

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RFT1 deficiency in three novel CDG patients von Vleugels, Wendy, Haeuptle, Micha A, Ng, Bobby G, Michalski, Jean-Claude, Battini, Roberta, Dionisi-Vici, Carlo, Ludman, Mark D, Jaeken, Jaak, Foulquier, François, Freeze, Hudson H, Matthijs, Gert, Hennet, Thierry

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The use of inappropriate, demeaning, and pejorative terminology in gene nomenclature: A comment on Feingold von Ludman, Mark D.

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Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome von Baris, Hagit N, Kedar, Inbal, Halpern, Gabrielle J, Shohat, Tamy, Magal, Nurit, Ludman, Mark D, Shohat, Mordechai

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JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I von Berman, Jason N., Greer, Wenda L., Archambeault, Sophie, Loh, Mignon L., Riddell, Christie, Morash, Barbara, Dumas, Nadine, Fernandez, Conrad V., Ludman, Mark D.

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VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study von Pettman, Rachel K, Crowley, Amy, Riddell, Christie, Ludman, Mark D

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Longitudinal Study of the Early Electroretinographic Changes in Alström's Syndrome von Tremblay, François, LaRoche, Robert G., Shea, Sarah E., Ludman, Mark D.

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Familial Platelet Disorder and Predisposition to Myeloid Leukemia (FPD/AML) in the Absence of RUNX1 Mutations- A Report of Three Families von Berman, Jason N., Couban, Stephen, Ebbin, Allan, Frangoul, Haydar, Quisumbing, Maria B., Aikie, Thomas E, Riddell, Christie, Ferguson, Meghan, Ludman, Mark D., Fernandez, Conrad V., Cantor, Alan B.

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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene von Eng, Christine M., Niehaus, Dana J., Enriquez, Annette L., Burgert, Tania S., Ludman, Mark D., Desnick, RobertJ

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Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families von Marshall, Jan D., Ludman, Mark D., Shea, Sarah E., Salisbury, Sonia R., Willi, Steven M., LaRoche, Robert G., Nishina, Patsy M.

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Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker von Bauer, Eugene A, Ludman, Mark D, Goldberg, James D, Berkowitz, Richard L, Holbrook, Karen A

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A structured diary to promote reflection and active learning von Brindle, M, Ludman, M D

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Successful treatment of painful crises of fabry disease with low dose morphine von Gordon, Kevin E., Ludman, Mark D., Finle, G.Allen

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Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene von Coulter-Mackie, M B, Gagnier, L, Beis, M J, Applegarth, D A, Cole, D E, Gordon, K, Ludman, M D

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Resting energy expenditure in Gaucher's disease type 1: Effect of Gaucher's cell burden on energy requirements von Barton, Donald J., Ludman, Mark D., Benkov, Keith, Grabowski, Gregory A., LeLeiko, Neal S.

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Treatment of painful crises of Fabry disease with morphine von Gordon, Kevin E., Ludman, Mark D., Allen Finley, G.

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Fluctuating asymmetry and disorders of developmental origin von Naugler, Christopher T., Ludman, Mark D.

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Hexosaminidase a activity and amyotrophic lateral sclerosis von Gudesblatt, Mark, Ludman, Mark D., Cohen, Jeffrey A., Desnick, Robert J., Chester, Sara, Grabowski, Gregory A., Caroscio, James T.

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