1. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Issue 1 (December 2016) Authors: Lévesque, Sébastien; Auray-Blais, Christiane; Gravel, Elaine; Boutin, Michel; Dempsey-Nunez, Laura; Jacques, Pierre-Etienne; Chenier, Sébastien; Larue, Sandrine; Rioux, Marie-France; Al-Hertani, Walla; Nadeau, Amelie; Mathieu, Jean; Maranda, Bruno; Désilets, Valérie; Waters, Paula; Keutzer, Joan;... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. (November 2019) Authors: Paik, Karen; Lines, Matthew A.; Chakraborty, Pranesh; Khangura, Sara D.; Latocki, Maureen; Al-Hertani, Walla; Brunel-Guitton, Catherine; Khan, Aneal; Penny, Blaine; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Sondheimer, Neal; Tarnopolsky, Mark; Tingley, Kylie; Coyle, Doug; Dyack, Sarah; Feigen... Other Names: collab. Journal: Canadian journal of neurological sciences Issue: Volume 46:Number 6(2019) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. Issue 4 (22nd November 2016) Authors: Yang, Hao; Al-Hertani, Walla; Cyr, Denis; Laframboise, Rachel; Parizeault, Guy; Wang, Shu Pei; Rossignol, Francis; Berthier, Marie-Thérèse; Giguère, Yves; Waters, Paula J; Mitchell, Grant A Other Names: author non-byline.; Alvarez Fernando author non-byline.; Brunel-Guitton Catherine author non-byline.; Buhas Daniela author non-byline.; Dubois Josée author non-byline.; Gosselin Martyne author non-byline.; Halac Ugur author non-byline.; Maranda Bruno author non-byline.; Mitchell John author non-... Journal: Journal of medical genetics Issue: Volume 54:Issue 4(2017) Page Start: 241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. Issue 2 (June 2019) Authors: Zakrzewski, Helena; Modabber, Milad; Wilson, Nagwa; Al-Hertani, Walla; Toffoli, Daniela Journal: Journal of neuro-ophthalmology Issue: Volume 39:Issue 2(2019:Jun.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MG-124 The investicate project: Identification of new variation, establishment of stem cells, and tissue collection advancing treatment efforts. (4th December 2015) Authors: Al-Hertani, Walla; Mechawar, Naguib; Ernst, Carl Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Supernumerary Carpal Bones in Larsen Syndrome: A Review of the Literature and Case Study. (December 2015) Authors: Govshievich, Alexander; Shararah, Abdulwahab; Aldekhayel, Salah; Al-Hertani, Walla; Williams, H Bruce Journal: Plastic surgery Issue: Volume 1:Number 3(2015) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Targeting neurological abnormalities in lysosomal storage diseases. (June 2022) Authors: van Gool, Raquel; Tucker-Bartley, Anthony; Yang, Edward; Todd, Nicholas; Guenther, Frank; Goodlett, Benjamin; Al-Hertani, Walla; Bodamer, Olaf A.; Upadhyay, Jaymin Journal: Trends in pharmacological sciences Issue: Volume 43:Number 6(2022) Page Start: 495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗