Kết quả tìm kiếm - Israela Lerer
- Đang hiển thị 1 - 7 kết quả của 7
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Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome Bằng Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, Daniela Iaconis, Ulrike Orth, Peter Meinecke, Israela Lerer, Andrea Ballabio, Andreas Gal, Brunella Franco, Kerstin Kutsche
Được phát hành 2006Artigo -
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations Bằng Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cécilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer, Agnès Rastetter, Elodie Martin, Delphine Bouteiller, Laurent Orlando, Gàbor Gyapay, Khalid H. El-Hachimi, Bat-El Zimmerman, Moriya Gamliel, Adel Misk, Israela Lerer, Alexis Brice, Alexandra Durr, Giovanni Stévanin
Được phát hành 2012Artigo -
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Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder Bằng Alexander Lossos, Nimrod Elazar, Israela Lerer, Ora Schueler‐Furman, Yakov Fellig, Benjamin S. Glick, Bat-El Zimmerman, Haim Azulay, Shlomo Dotan, Sharon Goldberg, John M. Gomori, Penina Ponger, J. P. Newman, Hodaifah Marreed, Andreas Steck, Nicole Schaeren‐Wiemers, Nofar Mor, Michal Harel, Tamar Geiger, Yael Eshed‐Eisenbach, Vardiella Meiner, Elior Peles
Được phát hành 2015Artigo -
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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis Bằng Karin Buiting, Bärbel Dittrich, Stephanie Groß, Christina Lich, Claudia Färber, Tina Buchholz, Ellie Smith, André Reis, Joachim Bürger, Markus M. Nöthen, U. Barth-Witte, Bart Janssen, Dvorah Abeliovich, Israela Lerer, Ans M.W. van den Ouweland, Dicky Halley, Connie Schrander‐Stumpel, H.J.M. Smeets, Peter Meinecke, Sue Malcolm, Anne Gardner, Marc Lalande, Robert D. Nicholls, K. Friend, Astrid Schulze, Gert Matthijs, Hannaleena Kokkonen, P Hilbert, Lionel Van Maldergem, G. Glóver, Pablo Carbonell, P J Willems, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke
Được phát hành 1998Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Mutation
Medicine
Disease gene identification
Exome sequencing
Phenotype
Allele
DNA methylation
Disease
Gene expression
Genomic imprinting
Hereditary spastic paraplegia
Missense mutation
ATP synthase
Angelman syndrome
Audiology
Brachydactyly
Camptodactyly
Candidate gene
Central nervous system
Chromosome
Chromosome 15
Compound heterozygosity
Connexin
CpG site
Dermatology
Environmental health
Exon