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by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 299 - 315
Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 299 - 315
Journal Article
Genetics in medicine, ISSN 1098-3600, 2014, Volume 16, Issue 6, pp. 448 - 459
Journal Article
Soviet Literature, ISSN 0202-1870, 01/1985, Issue 5, p. 165
Journal Article
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 12/2001, Volume 104, Issue 3, pp. 189 - 198
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 12/2001, Volume 104, Issue 3, pp. 189 - 198
We genotyped 19 NF1 families from the French Canadians of the Québec population with six intragenic polymorphic markers including 2 RFLPs (EcoRI and RsaI) and... 
neurofibromatosis type 1 | NF1 | genotype analysis | French Canadians | microdeletion | Microdeletion | Neurofibromatosis type 1 | Genotype analysis
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 04/2000, Volume 91, Issue 5, pp. 345 - 347
We report on a 5‐year‐old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and... 
phenotype | translocation | chromosome X | chromosome 1 | inactivation | duplication | Translocation | Phenotype | Duplication | Inactivation | Chromosome 1 | Chromosome X | GENETICS & HEREDITY | Translocation, Genetic | Dosage Compensation, Genetic | Trisomy | Chromosomes, Human, Pair 1 | Humans | Karyotyping | Child, Preschool | X Chromosome | Female | Abnormalities, Multiple - genetics
Journal Article
Journal of Otolaryngology, ISSN 0381-6605, 02/1997, Volume 26, Issue 1, pp. 13 - 19
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 01/1993, Volume 45, Issue 1, pp. 88 - 91
The National Neurofibromatosis Foundation International Database is a system for collecting comprehensive information on the clinical manifestations and... 
NF1 | database | neurofibromatosis | NF2 | NEUROFIBROMATOSIS | DATABASE | GENE | GENETICS & HEREDITY | Canada | Pilot Projects | Neurofibromatoses | Humans | Databases, Factual
Journal Article
Journal Article
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