Human Mutation

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Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations
Human Mutation - Tập 29 Số 9 - Trang E150-E172 - 2008
Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri, Qing Zhang, Eric Schmitt, Cavatina K. Truong, Margherita Milone, Bruce H. Cohen, Beverly Wical, Jaya Ganesh, Alice Basinger, Barbara K. Burton, Kathryn J. Swoboda, Donald L. Gilbert, Adeline Vanderver, Russell P. Saneto, Bruno Maranda, Georgianne Arnold, José E. Abdenur, Paula J. Waters, William C. Copeland
CRB1 mutation spectrum in inherited retinal dystrophies
Human Mutation - Tập 24 Số 5 - Trang 355-369 - 2004
Anneke I. den Hollander, Jason A. Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman, Frans P.M. Cremers
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
Human Mutation - Tập 6 Số 4 - Trang 311-325 - 1995
Michael D. Brown, Antonio Torroni, Calvin L. Reckord, Douglas C. Wallace
Mutation update of transcription factor genesFOXE3,HSF4,MAF, andPITX3causing cataracts and other developmental ocular defects
Human Mutation - Tập 39 Số 4 - Trang 471-494 - 2018
Deepti Anand, Smriti A. Agrawal, Anne Slavotinek, Salil A. Lachke
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor
Human Mutation - Tập 33 Số 1 - Trang 232-243 - 2012
Aitor Etxebarria, Lourdes Palacios, Marianne Stef, Diego Tejedor, Kepa B. Uribe, Amalia Oleaga, Luis Irigoyen, Beatriz Torres, Helena Ostolaza, César Martı́n
Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants
Human Mutation - Tập 36 Số 1 - Trang 129-141 - 2015
Aitor Etxebarria, Asier Benito‐Vicente, Lourdes Palacios, Marianne Stef, Ana Cenarro, Fernando Civeira, Helena Ostolaza, César Martı́n
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene
Human Mutation - Tập 17 Số 4 - Trang 348-348 - 2001
Wilfried Kugler, Arnulf Pekrun, Petra Laspe, Bernhard Erdlenbruch, M. Lakomek
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
Human Mutation - Tập 1 Số 6 - Trang 445-466 - 1992
Helen H. Hobbs, Michael S. Brown, Joseph L. Goldstein
Single nucleotide polymorphisms in CEL‐HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding
Human Mutation - Tập 41 Số 11 - Trang 1967-1978 - 2020
Brett M. Cassidy, Sammy Zino, Karianne Fjeld, Anders Molven, Mark E. Lowe, Xunjun Xiao
Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)
Human Mutation - Tập 30 Số 9 - Trang 1267-1277 - 2009
Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, Hanns Lochmà ⁄ ller, Claudio Graziano, Stella Mitrani‐Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs, Kristen L. Nowak
Tổng số: 108   
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