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Wyszukujesz frazę ""Mutation genetics"" wg kryterium: Temat


Tytuł :
Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene
Autorzy :
Rita Rosado Santos
Márcia Rodrigues
Teresa Loureiro
Pokaż więcej
Temat :
Lissencephaly/genetics
Malformations of Cortical Development
Mutation/genetics
Prenatal Diagnosis
Ubiquinone
Medicine
Medicine (General)
R5-920
Źródło :
Acta Médica Portuguesa, Vol 35, Iss 13 (2022)
Opis pliku :
electronic resource
Relacje :
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18606; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758
Dostęp URL :
https://doaj.org/article/ad331ad3cf1340a7a7c92a0cb991d208
Czasopismo naukowe
Tytuł :
Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma
Autorzy :
Wei Wan
Liang Zeng
Hongqun Jiang
Yunyan Xia
Yuanping Xiong
Pokaż więcej
Temat :
carney complex
PRKAR1A gene
mutation-genetics
external auditory canal myxoma
pediatrics
Genetics
QH426-470
Źródło :
Frontiers in Genetics, Vol 13 (2022)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fgene.2022.947305/full; https://doaj.org/toc/1664-8021
Dostęp URL :
https://doaj.org/article/d1b7554df2c44e1bb24db1b5514509ba
Czasopismo naukowe
Tytuł :
Development of Live Attenuated Salmonella Typhimurium Vaccine Strain Using Radiation Mutation Enhancement Technology (R-MET)
Autorzy :
Hyun Jung Ji
A-Yeung Jang
Joon Young Song
Ki Bum Ahn
Seung Hyun Han
Seok Jin Bang
Ho Kyoung Jung
Jin Hur
Ho Seong Seo
Pokaż więcej
Temat :
live vaccine
radiation
R-MET
Salmonella typhimurium
mutation- genetics
attenuation
Immunologic diseases. Allergy
RC581-607
Źródło :
Frontiers in Immunology, Vol 13 (2022)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fimmu.2022.931052/full; https://doaj.org/toc/1664-3224
Dostęp URL :
https://doaj.org/article/b22888bee92f4761b6d0803215b006e2
Czasopismo naukowe
Tytuł :
Comprehensive Genomic and Epigenomic Analyses on Transcriptomic Regulation in Stomach Adenocarcinoma
Autorzy :
Junxing Chen
Weinan Liu
Jiabin Du
Pengcheng Wang
Jintian Wang
Kai Ye
Pokaż więcej
Temat :
stomach adenocarcinoma
integrative analysis of genomic and epigenomic regulation
DNA copy number–correlated genes
methylation-correlated genes
mutationgenetics
Genetics
QH426-470
Źródło :
Frontiers in Genetics, Vol 12 (2022)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fgene.2021.778095/full; https://doaj.org/toc/1664-8021
Dostęp URL :
https://doaj.org/article/02af5032dc3f40878f9a4165b94b96b8
Czasopismo naukowe
Tytuł :
Genomic Surveillance and Phylodynamic Analyses Reveal the Emergence of Novel Mutations and Co-mutation Patterns Within SARS-CoV-2 Variants Prevalent in India
Autorzy :
Nupur Biswas
Priyanka Mallick
Sujay Krishna Maity
Debaleena Bhowmik
Arpita Ghosh Mitra
Soumen Saha
Aviral Roy
Partha Chakrabarti
Sandip Paul
Saikat Chakrabarti
Pokaż więcej
Temat :
genome sequencing
India
mutationgenetics
phylodynamic analyses
SARS-CoV-2
COVID-19
Microbiology
QR1-502
Źródło :
Frontiers in Microbiology, Vol 12 (2021)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fmicb.2021.703933/full; https://doaj.org/toc/1664-302X
Dostęp URL :
https://doaj.org/article/26ab8dbc3e2e4758b3a6d709f570c31e
Czasopismo naukowe
Tytuł :
The contribution of X-linked coding variation to severe developmental disorders
Autorzy :
Martin, Hilary C.
Gardner, Eugene J.
Samocha, Kaitlin E.
Kaplanis, Joanna
Akawi, Nadia
Sifrim, Alejandro
Eberhardt, Ruth Y.
Tavares, Ana Lisa Taylor
Neville, Matthew D. C.
Niemi, Mari E. K.
Gallone, Giuseppe
McRae, Jeremy
Wright, Caroline F.
FitzPatrick, David R.
Firth, Helen V.
Hurles, Matthew E.
Borras, Silvia
Clark, Caroline
Dean, John
Miedzybrodzka, Zosia
Ross, Alison
Tennant, Stephen
Dabir, Tabib
Donnelly, Deirdre
Humphreys, Mervyn
Magee, Alex
McConnell, Vivienne
McKee, Shane
McNerlan, Susan
Morrison, Patrick J.
Rea, Gillian
Stewart, Fiona
Cole, Trevor
Cooper, Nicola
Cooper-Charles, Lisa
Cox, Helen
Islam, Lily
Jarvis, Joanna
Keelagher, Rebecca
Lim, Derek
McMullan, Dominic
Morton, Jenny
Naik, Swati
O’Driscoll, Mary
Ong, Kai-Ren
Osio, Deborah
Ragge, Nicola
Turton, Sarah
Vogt, Julie
Williams, Denise
Bodek, Simon
Donaldson, Alan
Hills, Alison
Low, Karen
Newbury-Ecob, Ruth
Norman, Andrew M.
Roberts, Eileen
Scurr, Ingrid
Smithson, Sarah
Tooley, Madeleine
Abbs, Steve
Armstrong, Ruth
Dunn, Carolyn
Holden, Simon
Park, Soo-Mi
Paterson, Joan
Raymond, Lucy
Reid, Evan
Sandford, Richard
Simonic, Ingrid
Tischkowitz, Marc
Woods, Geoff
Bradley, Lisa
Comerford, Joanne
Green, Andrew
Lynch, Sally
McQuaid, Shirley
Mullaney, Brendan
Berg, Jonathan
Goudie, David
Mavrak, Eleni
McLean, Joanne
McWilliam, Catherine
Reavey, Eleanor
Azam, Tara
Cleary, Elaine
Jackson, Andrew
Lam, Wayne
Lampe, Anne
Moore, David
Porteous, Mary
Baple, Emma
Baptista, Júlia
Brewer, Carole
Castle, Bruce
Kivuva, Emma
Owens, Martina
Rankin, Julia
Shaw-Smith, Charles
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Bradley, Therese
Davidson, Rosemarie
Gardiner, Carol
Joss, Shelagh
Kinning, Esther
Longman, Cheryl
McGowan, Ruth
Murday, Victoria
Pilz, Daniela
Tobias, Edward
Whiteford, Margo
Williams, Nicola
Barnicoat, Angela
Clement, Emma
Faravelli, Francesca
Hurst, Jane
Jenkins, Lucy
Jones, Wendy
Kumar, V.K.Ajith
Lees, Melissa
Loughlin, Sam
Male, Alison
Morrogh, Deborah
Rosser, Elisabeth
Scott, Richard
Wilson, Louise
Beleza, Ana
Deshpande, Charu
Flinter, Frances
Holder, Muriel
Irving, Melita
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Molenda, Aneta
Robert, Leema
Roworth, Wendy
Ruddy, Deborah
Ryten, Mina
Yau, Shu
Bennett, Christopher
Blyth, Moira
Campbell, Jennifer
Coates, Andrea
Dobbie, Angus
Hewitt, Sarah
Hobson, Emma
Jackson, Eilidh
Jewell, Rosalyn
Kraus, Alison
Prescott, Katrina
Sheridan, Eamonn
Thomson, Jenny
Bradshaw, Kirsty
Dixit, Abhijit
Eason, Jacqueline
Haines, Rebecca
Harrison, Rachel
Mutch, Stacey
Sarkar, Ajoy
Searle, Claire
Shannon, Nora
Sharif, Abid
Suri, Mohnish
Vasudevan, Pradeep
Canham, Natalie
Ellis, Ian
Greenhalgh, Lynn
Howard, Emma
Stinton, Victoria
Swale, Andrew
Weber, Astrid
Banka, Siddharth
Breen, Catherine
Briggs, Tracy
Burkitt-Wright, Emma
Chandler, Kate
Clayton-Smith, Jill
Donnai, Dian
Douzgou, Sofia
Gaunt, Lorraine
Jones, Elizabeth
Kerr, Bronwyn
Langley, Claire
Metcalfe, Kay
Smith, Audrey
Wright, Ronnie
Bourn, David
Burn, John
Fisher, Richard
Hellens, Steve
Henderson, Alex
Montgomery, Tara
Splitt, Miranda
Straub, Volker
Wright, Michael
Zwolinski, Simon
Allen, Zoe
Bernhard, Birgitta
Brady, Angela
Brooks, Claire
Busby, Louise
Clowes, Virginia
Ghali, Neeti
Holder, Susan
Ibitoye, Rita
Wakeling, Emma
Blair, Edward
Carmichael, Jenny
Cilliers, Deirdre
Clasper, Susan
Gibbons, Richard
Kini, Usha
Lester, Tracy
Nemeth, Andrea
Poulton, Joanna
Price, Sue
Shears, Debbie
Stewart, Helen
Wilkie, Andrew
Albaba, Shadi
Baker, Duncan
Balasubramanian, Meena
Johnson, Diana
Parker, Michael
Quarrell, Oliver
Stewart, Alison
Willoughby, Josh
Crosby, Charlene
Elmslie, Frances
Homfray, Tessa
Jin, Huilin
Lahiri, Nayana
Mansour, Sahar
Marks, Karen
McEntagart, Meriel
Saggar, Anand
Tatton-Brown, Kate
Butler, Rachel
Clarke, Angus
Corrin, Sian
Fry, Andrew
Kamath, Arveen
McCann, Emma
Mugalaasi, Hood
Pottinger, Caroline
Procter, Annie
Sampson, Julian
Sansbury, Francis
Varghese, Vinod
Baralle, Diana
Callaway, Alison
Cassidy, Emma J.
Daniels, Stacey
Douglas, Andrew
Foulds, Nicola
Hunt, David
Kharbanda, Mira
Lachlan, Katherine
Mercer, Catherine
Side, Lucy
Temple, I. Karen
Wellesley, Diana
Pokaż więcej
Temat :
Chromosomes, Human, X/genetics
Developmental Disabilities/genetics
Female
Genes, Recessive
Genes, X-Linked
Genetic Diseases, X-Linked/genetics
Genetic Variation
Humans
Inheritance Patterns/genetics
Male
Multifactorial Inheritance/genetics
Mutation/genetics
Phenotype
Sex Characteristics
lcsh:Science
lcsh:Q
Article
Genetic association study
Medical genetics
Neurodevelopmental disorders
Deciphering Developmental Disorders Study
Chromosomes, Human, X
Genetic Diseases, X-Linked
Developmental Disabilities
Inheritance Patterns
Multifactorial Inheritance
Mutation
631/208/205
631/208/1516
631/208/366
49/23
General Physics and Astronomy
General Biochemistry, Genetics and Molecular Biology
General Chemistry
Developmental disorder
medicine.disease
medicine
Proband
Genetics
Missense mutation
Text mining
business.industry
business
Gene
Coding (social sciences)
Statistical analysis
Biology
Inference
MENTAL-RETARDATION
NOVO MUTATIONS
GENES
IDENTIFICATION
INDIVIDUALS
DISCOVERY
FRAMEWORK
VARIANTS
TRAITS
1184 Genetics, developmental biology, physiology
3111 Biomedicine
Źródło :
Deciphering Developmental Disorders Study 2021, ' The contribution of X-linked coding variation to severe developmental disorders ', Nature Communications, vol. 12, no. 1, 627 . https://doi.org/10.1038/s41467-020-20852-3
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Opis pliku :
application/pdf; Electronic
Dostęp URL :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f7ce6aa3e38d977912db1eeda30114
https://www.research.manchester.ac.uk/portal/en/publications/the-contribution-of-xlinked-coding-variation-to-severe-developmental-disorders(f6570c6e-13b0-40e2-9448-28afa04b8f48).html

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