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Refinado por: Base de dados/Biblioteca: SpringerLink remover Nome da Publicação: Genetics In Medicine remover
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1
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Sadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E. ; Stevenson, Roger E. ; Skinner, Steven A. ; DuPont, Barbara R. ; Fletcher, Robin S. ; Balci, Tugce B. ; Siu, Victoria Mok ; Granadillo, Jorge L. ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J. ; van Haelst, Mieke M. ; Mannens, Marcel M.A.M. ; Louie, Raymond J. ; Lee, Jennifer A. ; Tedder, Matthew L. ; Alders, Marielle

Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population
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Factors associated with the time to complete clinical exome sequencing in a pediatric patient population

Lee, Gabriella ; Yu, Linbo ; Suarez, Carlos J. ; Stevenson, David A. ; Ling, Albee ; Killer, Lindsay

Genetics in medicine, 2022-10, Vol.24 (10), p.2028-2033 [Periódico revisado por pares]

Elsevier Inc

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3
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Plotkin, Scott R. ; Messiaen, Ludwine ; Legius, Eric ; Pancza, Patrice ; Avery, Robert A. ; Blakeley, Jaishri O. ; Babovic-Vuksanovic, Dusica ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Giovannini, Marco ; Gutmann, David H. ; Hanemann, Clemens Oliver ; Kalamarides, Michel ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; MacCollin, Mia ; Papi, Laura ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Smith, Miriam J. ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Huson, Susan M. ; Wolkenstein, Pierre ; Evans, Dafydd Gareth

Genetics in medicine, 2022-09, Vol.24 (9), p.1967-1977 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Mulchandani, Surabhi ; Bhoj, Elizabeth J. ; Luo, Minjie ; Powell-Hamilton, Nina ; Jenny, Kim ; Gripp, Karen W. ; Elbracht, Miriam ; Eggermann, Thomas ; Turner, Claire L.S. ; Temple, I. Karen ; Mackay, Deborah J.G. ; Dubbs, Holly ; Stevenson, David A. ; Slattery, Leah ; Zackai, Elaine H. ; Spinner, Nancy B. ; Krantz, Ian D. ; Conlin, Laura K.

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited
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Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited

McDonald, Jamie ; Kornish, Jenna ; Stevenson, David A. ; Hanson-Kahn, Andrea ; Balch, Heather ; James, John ; Naik, Hetanshi ; Whitehead, Kevin J.

Genetics in medicine, 2023-08, Vol.25 (8), p.100865-100865, Article 100865 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
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Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Wooderchak-Donahue, Whitney L. ; Akay, Gulsen ; Whitehead, Kevin ; Briggs, Eric ; Stevenson, David A. ; O’Fallon, Brendan ; Velinder, Matthew ; Farrell, Andrew ; Shen, Wei ; Bedoukian, Emma ; Skrabann, Cara M. ; Antaya, Richard J. ; Henderson, Kate ; Pollak, Jeffrey ; Treat, James ; Day, Ronald ; Jacher, Joseph E. ; Hannibal, Mark ; Bontempo, Kelly ; Marth, Gabor ; Bayrak-Toydemir, Pinar ; McDonald, Jamie

Genetics in medicine, 2019-09, Vol.21 (9), p.2007-2014 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A. ; Relator, Raissa ; McConkey, Haley ; Demain, Leigh ; Dominguez-Garrido, Elena ; Kaat, Laura Donker ; Houge, Sofia Douzgou ; DuPont, Barbara R. ; Fee, Timothy ; Fletcher, Robin S. ; Gokhale, David ; Haukanes, Bjørn Ivar ; Henneman, Peter ; Hilton, Sarah ; Hilton, Benjamin A. ; Jenkinson, Sarah ; Lee, Jennifer A. ; Louie, Raymond J. ; Motazacker, M. Mahdi ; Rzasa, Jessica ; Stevenson, Roger E. ; Plomp, Astrid ; van der Laan, Liselot ; van der Smagt, Jasper ; Walden, Kellie K. ; Banka, Siddharth ; Mannens, Marcel ; Skinner, Steven A. ; Friez, Michael J. ; Campbell, Christopher ; Tedder, Matthew L. ; Alders, Marielle ; Sadikovic, Bekim

Genetics in medicine, 2024-05, Vol.26 (5), p.101075-101075, Article 101075 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Promoting appropriate genetic testing: the impact of a combined test review and consultative service
Promoting appropriate genetic testing: the impact of a combined test review and consultative service
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Promoting appropriate genetic testing: the impact of a combined test review and consultative service

Suarez, Carlos J ; Yu, Linbo ; Downs, Natalie ; Costa, Helio A ; Stevenson, David A

Genetics in medicine, 2017-09, Vol.19 (9), p.1049-1054 [Periódico revisado por pares]

United States: Elsevier Limited

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9
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
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Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

Evans, D Gareth ; Messiaen, Ludwine M ; Foulkes, William D ; Irving, Rachel E A ; Murray, Alexandra J ; Perez-Becerril, Cristina ; Rivera, Barbara ; McDonald-McGinn, Donna M ; Stevenson, David A ; Smith, Miriam J

Genetics in medicine, 2021-09, Vol.23 (9), p.1779-1782 [Periódico revisado por pares]

United States: Elsevier Limited

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10
Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection
Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection
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Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection

Beitelshees, Amber L ; Stevenson, James M ; El Rouby, Nihal ; Dillon, Chrisly ; Empey, Philip E ; Fielstein, Elliot M ; Johnson, Julie A ; Limdi, Nita A ; Ong, Henry H ; Franchi, Francesco ; Angiolillo, Dominick J ; Peterson, Joshua F ; Rosenman, Marc B ; Skaar, Todd C ; Tuteja, Sony ; Cavallari, Larisa H

Genetics in medicine, 2020-11, Vol.22 (11), p.1898-1902 [Periódico revisado por pares]

United States

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