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Showing results (131-140 of 150) with videos related to

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American Journal of Human Genetics|April 17, 2007
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromesN Dagoneau, S Bellais, P Blanchet, et al.
Journal of Medical Genetics|June 3, 2004
Broader geographical spectrum of Cohen syndrome due to COH1 mutationsG H Mochida, A Rajab, W Eyaid, et al.
American Journal of Ophthalmology|May 31, 2025
Visual Acuity and Quality of Life Outcomes With Pegcetacoplan Treatment: A Post Hoc Analysis From the OAKS and DERBY TrialsAllen Chiang, Matthew Davis, Warren Stevens, et al.
American Journal of Medical Genetics. Part A|October 27, 2018
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutationC Lemattre, J Thevenon, Y Duffourd, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|October 24, 2013
Quality of life outcomes with BG-12 (dimethyl fumarate) in patients with relapsing-remitting multiple sclerosis: the DEFINE studyLudwig Kappos, Ralf Gold, Douglas L Arnold, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|March 7, 2020
Development of the PREMature Infant Index (PREMII™), a clinician-reported outcome measure assessing functional status of extremely preterm infantsRobert M Ward, Mark A Turner, Ingrid Hansen-Pupp, et al.
Journal of Comparative Effectiveness Research|July 7, 2022
The cost-effectiveness, of pegcetacoplan compared with ravulizumab for the treatment of paroxysmal nocturnal hemoglobinuria, in a UK settingZalmai Hakimi, Koo Wilson, Eoin McAughey, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|October 24, 2013
Effects of BG-12 (dimethyl fumarate) on health-related quality of life in patients with relapsing-remitting multiple sclerosis: findings from the CONFIRM studyMariko Kita, Robert J Fox, J Theodore Phillips, et al.
American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.
Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.
Pageof 15

Showing results (131-140 of 150) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|April 17, 2007
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromesN Dagoneau, S Bellais, P Blanchet, et al.
Journal of Medical Genetics|June 3, 2004
Broader geographical spectrum of Cohen syndrome due to COH1 mutationsG H Mochida, A Rajab, W Eyaid, et al.
American Journal of Ophthalmology|May 31, 2025
Visual Acuity and Quality of Life Outcomes With Pegcetacoplan Treatment: A Post Hoc Analysis From the OAKS and DERBY TrialsAllen Chiang, Matthew Davis, Warren Stevens, et al.
American Journal of Medical Genetics. Part A|October 27, 2018
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutationC Lemattre, J Thevenon, Y Duffourd, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|October 24, 2013
Quality of life outcomes with BG-12 (dimethyl fumarate) in patients with relapsing-remitting multiple sclerosis: the DEFINE studyLudwig Kappos, Ralf Gold, Douglas L Arnold, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|March 7, 2020
Development of the PREMature Infant Index (PREMII™), a clinician-reported outcome measure assessing functional status of extremely preterm infantsRobert M Ward, Mark A Turner, Ingrid Hansen-Pupp, et al.
Journal of Comparative Effectiveness Research|July 7, 2022
The cost-effectiveness, of pegcetacoplan compared with ravulizumab for the treatment of paroxysmal nocturnal hemoglobinuria, in a UK settingZalmai Hakimi, Koo Wilson, Eoin McAughey, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|October 24, 2013
Effects of BG-12 (dimethyl fumarate) on health-related quality of life in patients with relapsing-remitting multiple sclerosis: findings from the CONFIRM studyMariko Kita, Robert J Fox, J Theodore Phillips, et al.
American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.
Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.
Pageof 15