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Author/Creator Friedman, Jan M

1. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. (24th September 2020)

Authors:
Al-Shekaili, Hilal H; Petkau, Terri L; Pena, Izabella; Lengyell, Tess C; Verhoeven-Duif, Nanda M; Ciapaite, Jolita; Bosma, Marjolein; van Faassen, Martijn; Kema, Ido P; Horvath, Gabriella; Ross, Colin; Simpson, Elizabeth M; Friedman, Jan M; van Karnebeek, Clara; Leavitt, Blair R
Journal:
Human molecular genetics
Issue:
Volume 29:Number 19(2020)
Page Start:
3266
Record Type:
Journal Article
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2. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients. Issue 10 (14th August 2015)

Authors:
Hexter, Adam; Jones, Adrian; Joe, Harry; Heap, Laura; Smith, Miriam J; Wallace, Andrew J; Halliday, Dorothy; Parry, Allyson; Taylor, Amy; Raymond, Lucy; Shaw, Adam; Afridi, Shazia; Obholzer, Rupert; Axon, Patrick; King, Andrew T; Friedman, Jan M; Evans, D Gareth R
Other Names:
author non-byline.; Burnet Neil author non-byline.; Donnelly Neil author non-byline.; Durie-Gair Juliette author non-byline.; English Martin author non-byline.; Folland Nicola author non-byline.; Foweraker Karen author non-byline.; Harris Fiona author non-byline.; Harris Frances author non-bylin...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 10(2015)
Page Start:
699
Record Type:
Journal Article
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3. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Issue 3 (14th October 2009)

Authors:
Thienpont, Bernard; Béna, Frédérique; Breckpot, Jeroen; Philip, Nicole; Menten, Björn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M; Fong, Chin-To; Kussmann, Jennifer L; Grange, Dorothy K; Gorski, Jerome L; Zahir, Farah; Yong, Siu Li; Morris, Michael M; Gimelli, Stefania; Fryns, Jean-P...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
155
Record Type:
Journal Article
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4. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. Issue 9 (1st June 2007)

Authors:
Zahir, Farah; Firth, Helen V; Baross, Agnes; Delaney, Allen D; Eydoux, Patrice; Gibson, William T; Langlois, Sylvie; Martin, Howard; Willatt, Lionel; Marra, Marco A; Friedman, Jan M
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 9(2007)
Page Start:
556
Record Type:
Journal Article
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5. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. Issue 4 (12th January 2007)

Authors:
Menten, Björn; Buysse, Karen; Zahir, Farah; Hellemans, Jan; Hamilton, Sara J; Costa, Teresa; Fagerstrom, Carrie; Anadiotis, George; Kingsbury, Daniel; McGillivray, Barbara C; Marra, Marco A; Friedman, Jan M; Speleman, Frank; Mortier, Geert
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 4(2007)
Page Start:
264
Record Type:
Journal Article
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8. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. Issue 7 (7th May 2015)

Authors:
Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L; Nelson, Tanya N; Richer, ...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 7(2015)
Page Start:
431
Record Type:
Journal Article
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9. Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study. (May 2023)

Authors:
Elliott, Alison M; Dragojlovic, Nick; Campbell, Teresa; Adam, Shelin; Souich, Christèle du; Fryer, Michele; Lehman, Anna; Karnebeek, Clara van; Lynd, Larry D; Friedman, Jan M
Journal:
Journal of telemedicine and telecare
Issue:
Volume 29:Number 4(2023)
Page Start:
318
Record Type:
Journal Article
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