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Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. [electronic resource] by
- Feldhammer, Matthew
- Durand, Stéphanie
- Mrázová, Lenka
- Boucher, Renée-Myriam
- Laframboise, Rachel
- Steinfeld, Robert
- Wraith, James E
- Michelakakis, Helen
- van Diggelen, Otto P
- Hrebícek, Martin
- Kmoch, Stanislav
- Pshezhetsky, Alexey V
Producer: 20090813
In:
Human mutation vol. 30
Availability: No items available.
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6.
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Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy. [electronic resource] by
- Mirchi, Amytice
- Pelletier, Félixe
- Tran, Luan T
- Keller, Stephanie
- Braverman, Nancy
- Tonduti, Davide
- Vanderver, Adeline
- Pizzino, Amy
- Dilenge, Marie-Emmanuelle
- Poulin, Chantal
- Shevell, Michael
- Majnemer, Annette
- Sébire, Guillaume
- Srour, Myriam
- Osterman, Bradley
- Boucher, Renée-Myriam
- Vanasse, Michel
- Rossignol, Elsa
- Mitchell, John
- Venkateswaran, Sunita
- Pohl, Daniela
- Kauffman, Marcelo
- Schiffmann, Raphael
- Goizet, Cyril
- Moutton, Sebastien
- Roncarolo, Federico
- Bernard, Geneviève
Producer: 20190520
In:
Pediatric neurology vol. 84
Availability: No items available.
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7.
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. [electronic resource] by
- Mucha, Bettina E
- Banka, Siddharth
- Ajeawung, Norbert Fonya
- Molidperee, Sirinart
- Chen, Gary G
- Koenig, Mary Kay
- Adejumo, Rhamat B
- Till, Marianne
- Harbord, Michael
- Perrier, Renee
- Lemyre, Emmanuelle
- Boucher, Renee-Myriam
- Skotko, Brian G
- Waxler, Jessica L
- Thomas, Mary Ann
- Hodge, Jennelle C
- Gecz, Jozef
- Nicholl, Jillian
- McGregor, Lesley
- Linden, Tobias
- Sisodiya, Sanjay M
- Sanlaville, Damien
- Cheung, Sau W
- Ernst, Carl
- Campeau, Philippe M
Producer: 20190903
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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8.
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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. [electronic resource] by
- Mucha, Bettina E
- Banka, Siddharth
- Ajeawung, Norbert Fonya
- Molidperee, Sirinart
- Chen, Gary G
- Koenig, Mary Kay
- Adejumo, Rhamat B
- Till, Marianne
- Harbord, Michael
- Perrier, Renee
- Lemyre, Emmanuelle
- Boucher, Renee-Myriam
- Skotko, Brian G
- Waxler, Jessica L
- Thomas, Mary Ann
- Hodge, Jennelle C
- Gecz, Jozef
- Nicholl, Jillian
- McGregor, Lesley
- Linden, Tobias
- Sisodiya, Sanjay M
- Sanlaville, Damien
- Cheung, Sau W
- Ernst, Carl
- Campeau, Philippe M
Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Sep 2019
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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9.
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. [electronic resource] by
- Srour, Myriam
- Hamdan, Fadi F
- McKnight, Dianalee
- Davis, Erica
- Mandel, Hanna
- Schwartzentruber, Jeremy
- Martin, Brissa
- Patry, Lysanne
- Nassif, Christina
- Dionne-Laporte, Alexandre
- Ospina, Luis H
- Lemyre, Emmanuelle
- Massicotte, Christine
- Laframboise, Rachel
- Maranda, Bruno
- Labuda, Damian
- Décarie, Jean-Claude
- Rypens, Françoise
- Goldsher, Dorith
- Fallet-Bianco, Catherine
- Soucy, Jean-François
- Laberge, Anne-Marie
- Maftei, Catalina
- Boycott, Kym
- Brais, Bernard
- Boucher, Renée-Myriam
- Rouleau, Guy A
- Katsanis, Nicholas
- Majewski, Jacek
- Elpeleg, Orly
- Kukolich, Mary K
- Shalev, Stavit
- Michaud, Jacques L
Producer: 20160225
In:
American journal of human genetics vol. 97
Availability: No items available.
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10.
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. [electronic resource] by
- Hamdan, Fadi F
- Myers, Candace T
- Cossette, Patrick
- Lemay, Philippe
- Spiegelman, Dan
- Laporte, Alexandre Dionne
- Nassif, Christina
- Diallo, Ousmane
- Monlong, Jean
- Cadieux-Dion, Maxime
- Dobrzeniecka, Sylvia
- Meloche, Caroline
- Retterer, Kyle
- Cho, Megan T
- Rosenfeld, Jill A
- Bi, Weimin
- Massicotte, Christine
- Miguet, Marguerite
- Brunga, Ledia
- Regan, Brigid M
- Mo, Kelly
- Tam, Cory
- Schneider, Amy
- Hollingsworth, Georgie
- FitzPatrick, David R
- Donaldson, Alan
- Canham, Natalie
- Blair, Edward
- Kerr, Bronwyn
- Fry, Andrew E
- Thomas, Rhys H
- Shelagh, Joss
- Hurst, Jane A
- Brittain, Helen
- Blyth, Moira
- Lebel, Robert Roger
- Gerkes, Erica H
- Davis-Keppen, Laura
- Stein, Quinn
- Chung, Wendy K
- Dorison, Sara J
- Benke, Paul J
- Fassi, Emily
- Corsten-Janssen, Nicole
- Kamsteeg, Erik-Jan
- Mau-Them, Frederic T
- Bruel, Ange-Line
- Verloes, Alain
- Õunap, Katrin
- Wojcik, Monica H
- Albert, Dara V F
- Venkateswaran, Sunita
- Ware, Tyson
- Jones, Dean
- Liu, Yu-Chi
- Mohammad, Shekeeb S
- Bizargity, Peyman
- Bacino, Carlos A
- Leuzzi, Vincenzo
- Martinelli, Simone
- Dallapiccola, Bruno
- Tartaglia, Marco
- Blumkin, Lubov
- Wierenga, Klaas J
- Purcarin, Gabriela
- O'Byrne, James J
- Stockler, Sylvia
- Lehman, Anna
- Keren, Boris
- Nougues, Marie-Christine
- Mignot, Cyril
- Auvin, Stéphane
- Nava, Caroline
- Hiatt, Susan M
- Bebin, Martina
- Shao, Yunru
- Scaglia, Fernando
- Lalani, Seema R
- Frye, Richard E
- Jarjour, Imad T
- Jacques, Stéphanie
- Boucher, Renee-Myriam
- Riou, Emilie
- Srour, Myriam
- Carmant, Lionel
- Lortie, Anne
- Major, Philippe
- Diadori, Paola
- Dubeau, François
- D'Anjou, Guy
- Bourque, Guillaume
- Berkovic, Samuel F
- Sadleir, Lynette G
- Campeau, Philippe M
- Kibar, Zoha
- Lafrenière, Ronald G
- Girard, Simon L
- Mercimek-Mahmutoglu, Saadet
- Boelman, Cyrus
- Rouleau, Guy A
- Scheffer, Ingrid E
- Mefford, Heather C
- Andrade, Danielle M
- Rossignol, Elsa
- Minassian, Berge A
- Michaud, Jacques L
Producer: 20171113
In:
American journal of human genetics vol. 101
Availability: No items available.
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