학술논문
'학술논문'
에서 검색결과 43건 | 목록
1~10
Academic Journal
Sharma, Mehul; Fu, Maggie P.; Lu, Henry Y.; Sharma, Ashish A.; Modi, Bhavi P.; Michalski, Christina; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Del Bel, Kate L.; Waqas, Meriam; Terry, Jefferson; Setiadi, Audi; Lavoie, Pascal M.; Wasserman, Wyeth W.; Mwenifumbo, Jill; Kobor, Michael S.; Lee, Anna F.; Kuchenbauer, Florian; Lehman, Anna; Cheng, Sylvia; Cooper, Anthony; Patel, Millan S.; Turvey, Stuart E.
In Blood 27 October 2022 140(17):1858-1874
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Academic Journal
Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P.; Biggs, Catherine M.; Boelman, Cyrus; Clarke, Lorne A.; Lehman, Anna; Turvey, Stuart E.
In Human Genetics and Genomics Advances 11 January 2024 5(1)
Academic Journal
Rajan-Babu, Indhu-Shree; Peng, Junran J.; Chiu, Readman; Birch, Patricia; Couse, Madeline; Guimond, Colleen; Lehman, Anna; Mwenifumbo, Jill; van Karnebeek, Clara; Friedman, Jan
Genome Medicine. September 13, 2021, Vol. 13 Issue 1
Academic Journal
Rajan-Babu, Indhu-Shree; Peng, Junran J.; Chiu, Readman; Adam, Shelin; Souich, Christele Du; Elliott, Alison; Lehman, Anna; Mwenifumbo, Jill; Nelson, Tanya; van Karnebeek, Clara; Friedman, Jan
Genome Medicine. August 9, 2021, Vol. 13 Issue 1
Academic Journal
van Karnebeek, Clara D.; Blydt-Hansen, Ingrid; Matthews, Allison M.; Avramovic, Vladimir; Price, Magda; Drogemoller, Britt; Shyr, Casper; Lee, Jessica; Mwenifumbo, Jill; Ghani, Aisha; Stockler, Sylvia; Friedman, Jan M.; Lehman, Anna; Ross, Colin J.; Wasserman, Wyeth W.; Tarailo-Graovac, Maja; Horvath, Gabriella A.
Neurogenetics; Oct2021, Vol. 22 Issue 4, p251-262, 12p
Academic Journal
Roston, Alexandra; Evans, Dan; Gill, Harinder; McKinnon, Margaret; Isidor, Bertrand; Cogné, Benjamin; Mwenifumbo, Jill; van Karnebeek, Clara; An, Jianghong; Jones, Steven J. M.; Farrer, Matthew; Demos, Michelle; Connolly, Mary; Gibson, William T.
Journal of Medical Genetics; Mar2021, Vol. 58 Issue 3, p196-204, 9p
Academic Journal
Guimond, Colleen; Birch, Patricia; Couse, Madeline; Lehman, Anna; Mwenifumbo, Jill; van karnebeek, Clara; Friedman, Jan
Academic Journal
Griffith, Malachi; Griffith, Obi L.; Mwenifumbo, Jill; Goya, Rodrigo; Morrissy, A Sorana; Morin, Ryan D; Corbett, Richard; Tang, Michelle J.; Ying-Chen Hou; Pugh, Trevor J.; Robertson, Gordon; Chittaranjan, Suganthi; Ally, Adrian; Asano, Jennifer K.; Chan, Susanna Y.; Li, Haiyan I.; McDonald, Helen; Teague, Kevin; Yongjun Zhao; Zeng, Thomas
Academic Journal
Maroilley, Tatiana; Mohajeri, Arezoo; Mwenifumbo, Jill; Avramovic, Vladimir; Jacob, Karen J.; McIntosh, Sarah; Correard, Solenne; Wasserman, Wyeth W.; Caron, Nadine R.; Arbour, Laura; Lehman, Anna; Tarailo-Graovac, Maja
Academic Journal
Cho, Raymond Y.; Peñaherrera, Maria S.; Du Souich, Christele; Huang, Lijia; Mwenifumbo, Jill; Nelson, Tanya N.; Elliott, Alison M.; Adam, Shelin; Eydoux, Patrice; Yang, Gui X.; Chijiwa, Chieko; Van Allen, Margot I.; Friedman, Jan M.; Robinson, Wendy P.; Lehman, Anna
American Journal of Medical Genetics. Part A; Mar2020, Vol. 182 Issue 3, p498-503, 6p
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[AR] Mwenifumbo, Jill
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