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Warner, Timothy Q
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1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
von
Stephens, Jonathan
,
Dewhurst, Eleanor
,
Malka, Samantha
,
Plagnol, Vincent
,
Rizzo, Roberta
,
Scott, Richard H.
,
Henderson, Robert H.H.
,
MacLaren, Robert E.
,
Paterson, Joan
,
Aitman, Timothy
,
Ali, Sonia
,
Ambegaonkar, Gautum
,
Arno, Gavin
,
Astle, William
,
Attwood, Antony
,
Bennett, David
,
Bitner-Glindzicz, Maria
,
Bleda, Marta
,
Boggard, Harm
,
Carss, Keren
,
Clements-Brod, Naomi
,
DaCosta, Rosa
,
De Vries, Minka
,
Dewhurst, Eleanor
,
Drewe, Elizabeth
,
Egner, William
,
Erber, Wendy N.
,
Everington, Tamara
,
Fletcher, Debra
,
Freson, Kathleen
,
Gale, Daniel
,
Ghali, Neeti
,
Ghurye, Rohit
,
Gräf, Stefan
,
Greene, Daniel
,
Grigoriadou, Sofia
,
Grozeva, Detelina
,
Hackett, Scott
,
Hadinnapola, Charaka
,
Hague, Rosie
,
Hammerton, Tracey
,
Heemskerk, Johan W.M.
,
Holder, Muriel
,
Holder, Susan
,
Huissoon, Aarnoud
,
Hurst, Jane
,
Jolles, Stephen
,
Keeling, David
,
Kennedy, Fiona
,
Kiely, David
,
Lawrie, Allan
,
Lear, Sara
,
Lees, Melissa
,
Lentaigne, Claire
,
Lorenzo, Lorena
,
Mangles, Sarah
,
Mapeta, Rutendo
,
Masati, Larahmie
,
Mathias, Mary
,
Michaelides, Michel
,
Millar, Carolyn M.
,
Moledina, Shahin
,
Moore, Anthony
,
Murng, Sai
,
Oksenhendler, Eric
,
Park, Soo-Mi
,
Patch, Chris
,
Paterson, Joan
,
Penkett, Christopher J.
,
Pepke-Zaba, Joanna
,
Pollock, Val
,
Qasim, Waseem
,
Quinti, Isabella
,
Reid, Evan
,
Rondina, Matthew
,
Rosser, Elisabeth
,
Santra, Saikat
,
Sargur, Ravishankar
,
Savic, Sinisa
,
Scully, Marie
,
Sewell, Carrock
,
Smith, Kenneth
,
Southgate, Laura
,
Stauss, Hans
,
Stein, Penelope
,
Talks, Kate
,
Thomas, Ellen
,
Thrasher, Adrian
,
Tischkowitz, Marc
,
Titterton, Catherine
,
Turro, Ernest
,
von Ziegenweldt, Julie
,
Vonk Noordegraaf, Anton
,
Wakeling, Emma
,
Wanjiku, Ivy
,
Welch, Steve
,
Westbury, Sarah
,
Woods, Geoffrey
,
Yong, Patrick
,
Webster, Andrew R.
Veröffentlicht in
American journal of human genetics
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2
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
von
Hadinnapola, Charaka
,
Bleda, Marta
,
Haimel, Matthias
,
Screaton, Nicholas
,
Swift, Andrew
,
Dorfmüller, Peter
,
Preston, Stephen D
,
Southwood, Mark
,
Hernandez-Sanchez, Jules
,
Martin, Jennifer
,
Treacy, Carmen
,
Yates, Katherine
,
Bogaard, Harm
,
Church, Colin
,
Coghlan, Gerry
,
Condliffe, Robin
,
Corris, Paul A
,
Gibbs, Simon
,
Girerd, Barbara
,
Holden, Simon
,
Humbert, Marc
,
Kiely, David G
,
Lawrie, Allan
,
Machado, Rajiv
,
MacKenzie Ross, Robert
,
Moledina, Shahin
,
Montani, David
,
Newnham, Michael
,
Peacock, Andrew
,
Pepke-Zaba, Joanna
,
Rayner-Matthews, Paula
,
Shamardina, Olga
,
Soubrier, Florent
,
Southgate, Laura
,
Suntharalingam, Jay
,
Toshner, Mark
,
Trembath, Richard
,
Vonk Noordegraaf, Anton
,
Wilkins, Martin R
,
Wort, Stephen J
,
Wharton, John
,
Gräf, Stefan
,
Morrell, Nicholas W
Veröffentlicht in
Circulation (New York, N.Y.)
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3
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
von
Reich, Adi
,
Cross, J. Helen
,
Scheffer, Ingrid E.
,
Krishnappa, Netravathi
,
Awada, Jana
,
Baralle, Diana
,
Bernhard, Birgitta
,
Clasper, Susan
,
Clayton-Smith, Jill
,
Cresswell, Lara
,
Donaldson, Alan
,
Ellis, Ian
,
Gaunt, Lorraine
,
He, Liu
,
Hewitt, Sarah
,
Hurst, Jane
,
Kirk, Claire
,
Kivuva, Emma
,
Kumar, Dhavendra
,
Mansour, Sahar
,
McCann, Emma
,
McKee, Shane
,
Mugalaasi, Hood
,
Murphy, Helen
,
Newbury-Ecob, Ruth
,
Pilz, Daniela T.
,
Pollard, Martin
,
Pridham, Abigail
,
Saggar, Anand
,
Scott, Richard
,
Shearing, Emma
,
Smithson, Sarah
,
Sneddon, Linda
,
Suri, Mohnish
,
Tatton-Brown, Kate
,
Thomson, Jenny
,
Torokwa, Audrey
,
Varghese, Vinod
,
Yau, Michael
,
Artigas, Maria Soler
,
Boustred, Chris
,
Evans, David
,
Flicek, Paul
,
Hart, Deborah
,
Langford, Cordelia
,
Lawson, Daniel
,
Li, Rui
,
O'Donnovan, Michael
,
Parker, Victoria
,
Parr, Jeremy R.
,
Paunio, Tiina
,
Rehnström, Karola
,
Sun, Jianping
,
Suvisaari, Jaana
,
Tachmazidou, Ionna
,
Williamson, Kathleen A.
,
Wong, Kim
,
Alachkar, Hana
,
Ambegaonkar, Gautum
,
Attwood, Antony
,
Austin, Steve
,
Bennett, David
,
Bibi, Shahnaz
,
Bleda, Marta
,
Boggard, Harm
,
Bradley, John R.
,
Browning, Michael
,
Clement, Emma
,
Doffinger, Rainer
,
Drewe, Elizabeth
,
Frary, Amy
,
Ghataorhe, Pavandeep K.
,
Greenhalgh, Alan
,
Hackett, Scott
,
Hadinnapola, Charaka
,
Heemskerk, Johan W.M.
,
Humbert, Marc
,
James, Roger
,
Krishnakumar, Deepa
,
Lawrie, Allan
,
Lentaigne, Claire
,
Maimaris, Jesmeen
,
Maw, Anna
,
Megy, Karyn
,
Moledina, Shahin
,
Morrell, Nicholas
,
Nejentsev, Sergey
,
Polwarth, Gary
,
Quinti, Isabella
,
Raymond, F. Lucy
,
Samarghitean, Crina
,
Sanchis-Juan, Alba
,
Southgate, Laura
,
Stauss, Hans
,
Thrasher, Adrian
,
Trembath, Richard
,
Turro, Ernest
,
Williamson, Catherine
,
Yeatman, Nigel
,
Millichap, John J.
Veröffentlicht in
American journal of human genetics
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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
von
Farmery, James H. R.
,
Smith, Mike L.
,
Lynch, Andy G.
Veröffentlicht in
Scientific reports
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5
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
von
Duarte, Sofia T.
,
Charles, Perinne
,
Pfundt, Rolph
,
van Bokhoven, Hans
,
van Ravenswaaij-Arts, Conny
,
Morrell, Nicholas W.
,
Thrasher, Adrian
,
Fletcher, Debra
,
Veltman, Marijke
,
Davis, John
,
Frary, Amy
,
Martin, Jennifer M.
,
Collins, Janine
,
Favier, Remi
,
Hart, Daniel
,
Heemskerk, Johan W.M.
,
Liesner, Ri
,
Mangles, Sarah
,
Roughley, Catherine
,
Tait, R. Campbell
,
Thachil, Jecko
,
Van Geet, Chris
,
De Vries, Minka
,
Warner, Timothy Q.
,
Furnell, Abigail
,
Mapeta, Rutendo
,
Whitehorn, Deborah
,
Daugherty, Louise
,
Deevi, Sri V.V.
,
Hu, Fengyuan
,
Matser, Vera
,
Megy, Karyn
,
Tuna, Salih
,
von Ziegenweldt, Julie
,
Haimel, Matthias
,
Richardson, Sylvia
,
Rankin, Stuart
,
Anderson, Julie
,
Stock, Sophie
,
Armstrong, Ruth
,
Bitner-Glindzicz, Maria
,
Brady, Angie
,
Clement, Emma
,
Firth, Helen
,
Flinter, Frances
,
French, Courtney
,
Holder, Muriel
,
Hurst, Jane
,
Josifova, Dragana
,
Krishnakumar, Deepa
,
Kurian, Manju A.
,
Mehta, Sarju
,
Moore, Anthony
,
Rankin, Julia
,
Reid, Evan
,
Scott, Richard
,
Thomas, Ellen
,
Wassmer, Evangeline
,
Creaser-Myers, Amanda
,
Gall, Henning
,
Ghataorhe, Pavandeep K.
,
Houweling, Arjan C.
,
in’t Veld, Anna Huis
,
Ross, Rob V. Mackenzie
,
Rhodes, Christopher J.
,
Soubrier, Florent
,
Treacy, Carmen M.
,
Vonk Noordegraaf, Anton
,
Antrobus, Richard
,
Arumugakani, Gururaj
,
Bibi, Shahnaz
,
Devlin, Lisa
,
Ghurye, Rohit
,
Grigoriadou, Sofia
,
Harper, Lorraine
,
Herwadkar, Archana
,
Jolles, Stephen
,
Kumararatne, Dinakantha
,
Lorenzo, Lorena
,
Murng, Sai
,
Nejentsev, Sergey
,
Quinti, Isabella
,
Samarghitean, Crina
,
Savic, Sinisa
,
Yong, Patrick
,
Ancliff, Phil
,
Layton, Mark
,
Mead, Adam
,
Roy, Noémi
,
Chambers, Jenny
,
Estiu, Cecelia
,
Simpson, Michael
,
Emmerson, Ingrid
,
McCarthy, Mark
,
Van Zuydam, Natalie
,
Afzal, Maryam
,
Colby, Elizabeth
,
Boycott, Kym M.
,
Majewski, Jacek
,
Dyment, David
Veröffentlicht in
American journal of human genetics
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
von
Arno, Gavin
,
Zihni, Ceniz
,
Robson, Anthony G.
,
Fiorentino, Alessia
,
Black, Graeme
,
Ponitkos, Nikos
,
Holder, Graham E.
,
Aitman, Timothy
,
Alachkar, Hana
,
Allsup, David
,
Anderson, Julie
,
Armstrong, Ruth
,
Arumugakani, Gururaj
,
Ashford, Sofie
,
Bakchoul, Tamam
,
Bariana, Tadbir K.
,
Bibi, Shahnaz
,
Bitner-Glindzicz, Maria
,
Bolton-Maggs, Paula
,
Brady, Angie
,
Brown, Matthew
,
Caulfield, Mark
,
Chitre, Manali
,
Clowes, Virginia
,
Coghlan, Gerry
,
Collins, Peter
,
Creaser-Myers, Amanda
,
DaCosta, Rosa
,
Davies, Sophie
,
Deegan, Patrick
,
Deshpande, Charu
,
Doffinger, Rainer
,
Egner, William
,
Erwood, Marie
,
Favier, Remi
,
Flinter, Frances
,
Furie, Bruce
,
Furnell, Abigail
,
Gardham, Alice
,
Gattens, Michael
,
Ghataorhe, Pavandeep K.
,
Gibbs, Simon
,
Gilmour, Kimberley
,
Gissen, Paul
,
Goddard, Sarah
,
Gordins, Pavel
,
Greinacher, Andreas
,
Grigoriadou, Sofia
,
Hayman, Grant
,
Henderson, Robert
,
Henskens, Yvonne
,
Holden, Simon
,
Hu, Fengyuan
,
Jolles, Stephen
,
Josifova, Dragana
,
Keeling, David
,
Kelleher, Peter
,
Kelly, Anne M.
,
Kuijpers, Taco W.
,
Kumararatne, Dinakantha
,
Kurian, Manju
,
Laffan, Michael A.
,
Linger, Rachel
,
Machado, Rajiv
,
Manson, Ania
,
Markus, Hugh S.
,
Meehan, Sharon
,
Ouwehand, Willem H.
,
Park, Soo-Mi
,
Parker, Alasdair
,
Paterson, Joan
,
Peerlinck, Kathelijne
,
Perry, David J.
,
Qasim, Waseem
,
Rankin, Julia
,
Rehnstrom, Karola
,
Roberts, Irene
,
Roughley, Catherine
,
Rue-Albrecht, Kevin
,
Schulze, Harald
,
Shamardina, Olga
,
Shipley, Debbie
,
Simeoni, Ilenia
,
Stephens, Jonathan
,
Suntharalingam, Jay
,
Thachil, Jecko
,
Thaventhiran, James
,
Thomas, Ellen
,
Titterton, Catherine
,
Toh, Cheng-Hock
,
Turek, Wojciech
,
Turro, Ernest
,
Van Geet, Chris
,
Wakeling, Emma
,
Warner, Timothy Q.
,
Webster, Andrew
,
Wilkins, Martin
,
Young, Tim
,
Yu, Ping
,
Webster, Andrew R.
Veröffentlicht in
American journal of human genetics
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Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
von
Farmery, James H. R.
,
Smith, Mike L.
,
Lynch, Andy G.
Veröffentlicht in
Scientific reports
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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
von
Mead, Adam
,
Manzur, Adnan
,
Thrasher, Adrian
,
Sanchis-Juan, Alba
,
Creaser-Myers, Amanda
,
Peacock, Andrew J
,
Mumford, Andrew
,
Rice, Andrew
,
Brady, Angie
,
Koziell, Ania
,
Attwood, Antony
,
Girerd, Barbara
,
Williamson, Catherine
,
Deshpande, Charu
,
Toh, Cheng-Hock
,
Bacchelli, Chiara
,
Babbs, Christian
,
Bryson, Christine
,
Rhodes, Christopher J
,
Watt, Christopher
,
Lentaigne, Claire
,
McJannet, Coleen
,
Bennett, David
,
Gosal, David
,
Perry, David J
,
Keeling, David
,
Montani, David
,
Whitehorn, Deborah
,
Kumararatne, Dinakantha
,
Thompson, Dorothy
,
Maher, Eamonn
,
Wong, Edwin K. S
,
Louka, Eleni
,
Rosser, Elisabeth
,
Chalmers, Elizabeth
,
Wakeling, Emma
,
Reid, Evan
,
Polwarth, Gary
,
Boggard, Harm J
,
Firth, Helen
,
Markus, Hugh S
,
Wanjiku, Ivy
,
Payne, Jeanette
,
Pepke-Zaba, Joanna
,
Rankin, Julia
,
Vogt, Julie
,
von Ziegenweldt, Julie
,
Rehnstrom, Karola
,
Peerlinck, Kathelijne
,
Gilmour, Kimberley
,
Devlin, Lisa
,
Willcocks, Lisa
,
Daugherty, Louise
,
Chitre, Manali
,
Humbert, Marc
,
Bitner-Glindzicz, Maria
,
Erwood, Marie
,
Veltman, Marijke
,
Layton, Mark
,
Mathias, Mary
,
Laffan, Michael A
,
Gattens, Michael
,
Mahdi-Rogers, Mohamed
,
Thomas, Moira
,
Dormand, Natalie
,
Ghali, Neeti
,
Cooper, Nichola
,
Roy, Noémi
,
Alavijeh, Omid S
,
Nurden, Paquita
,
Chinnery, Patrick
,
Deegan, Patrick
,
Man, Patrick Yu Wai
,
Collins, Peter
,
Linger, Rachel
,
Favier, Remi
,
Liesner, Ri
,
Henderson, Robert
,
DaCosta, Rosa
,
Hague, Rosie
,
Noorani, Sadia
,
Murng, Sai
,
Santra, Saikat
,
Westbury, Sarah
,
Nejentsev, Sergey
,
Othman, Shokri
,
Savic, Sinisa
,
Papadia, Sofia
,
Ashford, Sofie
,
Park, Soo-Mi
,
Jolles, Stephen
,
Meacham, Stuart
,
Rankin, Stuart
,
Seneviratne, Suranjith
,
Kuijpers, Taco W
,
Everington, Tamara
,
Cookson, Victoria
,
Qasim, Waseem
,
Ouwehand, Willem H
,
Lynch, Andy G
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
von
Hernandez-Sanchez, Jules
,
Martin, Jennifer
,
Bogaard, Harm
,
Church, Colin
,
Coghlan, Gerry
,
Condliffe, Robin
,
Gibbs, Simon
,
Humbert, Marc
,
Kiely, David G
,
Lawrie, Allan
,
Peacock, Andrew
,
Shamardina, Olga
,
Southgate, Laura
,
Morrell, Nicholas W
,
Aitman, Timothy
,
Bennett, David
,
Koziell, Ania
,
Ouwehand, Willem H
,
Perry, David
,
Raymond, F Lucy
,
Thrasher, Adrian
,
Fletcher, Debra
,
Penkett, Christopher J
,
Veltman, Marijke
,
Clements-Brod, Naomi
,
Davis, John
,
Dewhurst, Eleanor
,
Frary, Amy
,
Rehnstrom, Karola
,
Austin, Steve
,
Bariana, Tadbir K
,
Collins, Peter
,
Erber, Wendy N
,
Favier, Remi
,
Furie, Bruce
,
Gattens, Michael
,
Gomez, Keith
,
Hart, Daniel
,
Kelly, Anne M
,
Lambert, Michele P
,
Lentaigne, Claire
,
Mathias, Mary
,
Payne, Jeanette
,
Pasi, John
,
Peerlinck, Kathelijne
,
Roughley, Catherine
,
Sivapalaratnam, Suthesh
,
Talks, Kate
,
Thachil, Jecko
,
Turro, Ernest
,
Van Geet, Chris
,
De Vries, Minka
,
Warner, Timothy Q
,
Attwood, Antony
,
Daugherty, Louise
,
Megy, Karyn
,
Tuna, Salih
,
Lango-Allen, Hana
,
Richardson, Sylvia
,
Rankin, Stuart
,
McJannet, Coleen
,
Vogt, Julie
,
Maw, Anna
,
Armstrong, Ruth
,
Mehta, Sarju
,
Carmichael, Jenny
,
Allen, Louise
,
Firth, Helen
,
Doffinger, Rainer
,
Parker, Alasdair
,
Lees, Melissa
,
Gissen, Paul
,
Josifova, Dragana
,
Thomas, Ellen
,
Patch, Chris
,
Deshpande, Charu
,
Flinter, Frances
,
Wakeling, Emma
,
Brady, Angie
,
Clowes, Virginia
,
Moore, Anthony
,
Arno, Gavin
,
Grozeva, Detelina
,
Reid, Evan
,
Tischkowitz, Marc
,
Meehan, Sharon
,
Rue-Albrecht, Kevin
,
Chandra, Anita
,
Goddard, Sarah
,
Kelleher, Peter
,
Kumararatne, Dinakantha
,
Lear, Sara
,
Longhurst, Hilary
,
Lorenzo, Lorena
,
Maimaris, Jesmeen
,
McDermott, Elizabeth
,
Noorani, Sadia
,
Oksenhendler, Eric
,
Welch, Steve
,
Willcocks, Lisa
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Risk of major bleeding associated with aspirin use in non-surgical critically ill patients receiving therapeutic anticoagulation
von
Subat, Yosuf W.
,
Rayes, Hamza
,
Hanson, Andrew C.
,
Johnson, Madeline Q.
,
Schulte, Phillip J.
,
Evans, Kimberly
,
Weister, Timothy
,
Trivedi, Vrinda
,
Gajic, Ognjen
,
Warner, Matthew A.
Veröffentlicht in
Journal of critical care
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11
Localization of transfected B7-1 (CD80) DNA in human melanoma cells after particle-mediated gene transfer
von
McCarthy, Donna O.
,
Meisner, Lorraine F.
,
Bourdeau-Heller, Jeanne
,
Roberts, Timothy R.
,
Wu, Shi-Qi
,
Warner, Thomas F.
,
Albertini, Mark R.
Veröffentlicht in
Cancer genetics and cytogenetics
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American Journal Of Human Genetics
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Cancer Genetics And Cytogenetics
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Circulation
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