Kết quả tìm kiếm - Fatima Jaffer
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1
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature Bằng Merel Klaassens, Deborah Morrogh, Elisabeth Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A. Bok, Tim Segboer, Martine van Belzen, Rosaline C. M. Quinlivan, Ajith Kumar, Jane A. Hurst, Richard H. Scott
Được phát hành 2014Revisão -
2
The clinical and genetic heterogeneity of paroxysmal dyskinesias Bằng A. Gardiner, Fatima Jaffer, Russell C. Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, María Stamelou, Matthew C. Walker, Dimitri M. Kullmann, Thomas T. Warner, Paul Jarman, Michael G. Hanna, Manju A. Kurian, Kailash P. Bhatia, Henry Houlden
Được phát hành 2015Revisão -
3
Atypical periodic paralysis and myalgia Bằng Emma Matthews, Christoph Neuwirth, Fatima Jaffer, R. Scalco, Doreen Fialho, Matt Parton, Dipa Raja Rayan, Karen Suetterlin, Richa Sud, Roland Spiegel, Rachel Mein, Henry Houlden, Andrew M. Schaefer, Estelle Healy, Jacqueline Palace, Rosaline C. M. Quinlivan, Susan Treves, Janice L. Holton, Heinz Jungbluth, Michael G. Hanna
Được phát hành 2018Artigo -
4
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients Bằng Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay M. Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid E. Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramírez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie‐Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, J. Helen Cross, Fiorella Gurrieri, Francesco Danilo Tiziano, Soňa Nevšímalová, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad A. Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou
Được phát hành 2015Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Medicine
Internal medicine
Phenotype
Mutation
Pediatrics
Psychiatry
Ataxia
Aura
Biopsy
Cohort
Disease
Dyskinesia
Epilepsy
Familial hemiplegic migraine
Frameshift mutation
Gene mutation
Genetic heterogeneity
Genetic testing
Haploinsufficiency
Hypotonia
Intellectual disability
Macrocephaly
Migraine
Migraine with aura
Movement disorders
Muscle biopsy
Muscle disorder