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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Nature (London), 2020-10, Vol.586 (7831), p.757-762
- Kaplanis, Joanna
- Samocha, Kaitlin E.
- Wiel, Laurens
- Zhang, Zhancheng
- Arvai, Kevin J.
- Eberhardt, Ruth Y.
- Gallone, Giuseppe
- Lelieveld, Stefan H.
- Martin, Hilary C.
- McRae, Jeremy F.
- Short, Patrick J.
- Torene, Rebecca I.
- de Boer, Elke
- Danecek, Petr
- Gardner, Eugene J.
- Huang, Ni
- Lord, Jenny
- Martincorena, Iñigo
- Pfundt, Rolph
- Reijnders, Margot R. F.
- Yeung, Alison
- Yntema, Helger G.
- Vissers, Lisenka E. L. M.
- Juusola, Jane
- Wright, Caroline F.
- Brunner, Han G.
- Firth, Helen V.
- FitzPatrick, David R.
- Barrett, Jeffrey C.
- Hurles, Matthew E.
- Gilissen, Christian
- Retterer, Kyle
2020
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JNCI : Journal of the National Cancer Institute, 2013-06, Vol.105 (11), p.812-822
- MAVADDAT, Nasim
- PEOCK, Susan
- DAVIDSON, Rosemarie
- ECCLES, Diana
- COLE, Trevor
- COOK, Jackie
- BREWER, Carole
- TISCHKOWITZ, Marc
- DOUGLAS, Fiona
- HODGSON, Shirley
- WALKER, Lisa
- PORTEOUS, Mary E
- FROST, Debra
- MORRISON, Patrick J
- SIDE, Lucy E
- KENNEDY, M. John
- HOUGHTON, Catherine
- DONALDSON, Alan
- ROGERS, Mark T
- DORKINS, Huw
- MIEDZYBRODZKA, Zosia
- GREGORY, Helen
- EASON, Jacqueline
- ELLIS, Steve
- BARWELL, Julian
- MCCANN, Emma
- MURRAY, Alex
- ANTONIOU, Antonis C
- EASTON, Douglas F
- PLATTE, Radka
- FINEBERG, Elena
- EVANS, D. Gareth
- IZATT, Louise
- EELES, Rosalind A
- ADLARD, Julian
2013
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The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
- Wright, Caroline F.
- Campbell, Patrick
- Eberhardt, Ruth Y.
- Aitken, Stuart
- Perrett, Daniel
- Brent, Simon
- Danecek, Petr
- Gardner, Eugene J.
- Chundru, V. Kartik
- Lindsay, Sarah J.
- Andrews, Katrina
- Hampstead, Juliet
- Kaplanis, Joanna
- Samocha, Kaitlin E.
- Middleton, Anna
- Foreman, Julia
- Hobson, Rachel J.
- Parker, Michael J.
- Martin, Hilary C.
- FitzPatrick, David R.
- Hurles, Matthew E.
- Firth, Helen V.
2023
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Journal of medical genetics, 2023-02, Vol.60 (2), p.107-111
- Hanson, Helen
- Durkie, Miranda
- Lalloo, Fiona
- Izatt, Louise
- McVeigh, Terri P
- Cook, Jackie A
- Brewer, Carole
- Drummond, James
- Butler, Samantha
- Cranston, Treena
- Casey, Ruth
- Tan, Tricia
- Morganstein, Daniel
- Eccles, Diana M
- Tischkowitz, Marc
- Turnbull, Clare
- Woodward, Emma Roisin
- Maher, Eamonn R
- Donaldson, Alan
- Pelz, Frauke
- George, Angela
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- Halliday, Dorothy
- Snape, Katie
- Ong, Kai-Ren
- Harrison, Rachel
- Adlard, Julian
- Greenhalgh, Lynn
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- Kumar, Ajith
- Martin, Richard
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- Davison, Rosemarie
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- Miedzybrodzka, Zosia
- Barwell, Julian
- Side, Lucy
2023
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Journal of medical genetics, 2021-02, Vol.58 (2), p.135-139
2021
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Journal of medical genetics, 2023-05, Vol.60 (5), p.417-429
- Hanson, Helen
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- Allen, Sophie
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- Rafi, Imran
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- Side, Lucy
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- majd, Hooman Soleymani
- Speight, Bev
- Tailor, Anil
- Teh, William
- Williamson, Karin
2023
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Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627
2021
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British journal of cancer, 2024-06, Vol.130 (12), p.2027-2036
2024
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Molecular psychiatry, 2023-02, Vol.28 (2), p.668-697
- Palmer, Elizabeth E.
- Pusch, Michael
- Picollo, Alessandra
- Forwood, Caitlin
- Nguyen, Matthew H.
- Suckow, Vanessa
- Gibbons, Jessica
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- Sigfrid, Lisa
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- Alkuraya, Fowzan S.
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- Hashem, Mais O.
- Stamberger, Hannah
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- Ceulemans, Berten
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- Nunn, Kenneth
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- Raynaud, Martine
- Motter, Constance S.
- Ward-Melver, Catherine
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- Meuwissen, Marije
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- Dikow, Nicola
- Grimmel, Mona
- Haack, Tobias B.
- Clement, Emma
- McTague, Amy
- Hunt, David
- Townshend, Sharron
- Ward, Michelle
- Richards, Linda J.
- Simons, Cas
- Costain, Gregory
- Dupuis, Lucie
- Mendoza-Londono, Roberto
- Dudding-Byth, Tracy
- Boyle, Jackie
- Saunders, Carol
- Fleming, Emily
- El Chehadeh, Salima
- Spitz, Marie-Aude
- Piton, Amelie
- Gerard, Bénédicte
- Abi Warde, Marie-Thérèse
- Rea, Gillian
- McKenna, Caoimhe
- Douzgou, Sofia
- Banka, Siddharth
- Akman, Cigdem
- Bain, Jennifer M.
- Sands, Tristan T.
- Wilson, Golder N.
- Silvertooth, Erin J.
- Miller, Lauren
- Lederer, Damien
- Sachdev, Rani
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- Collins, Felicity
- Carter, Melissa
- Rohena, Luis
- Willemsen, Marjolein H.
- Ockeloen, Charlotte W.
- Pfundt, Rolph
- Kroft, Sanne D.
- Field, Michael
- Laranjeira, Francisco E. R.
- Fortuna, Ana M.
- Soares, Ana R.
- Michaud, Vincent
- Naudion, Sophie
- Golla, Sailaja
- Weaver, David D.
- Bird, Lynne M.
- Friedman, Jennifer
- Clowes, Virginia
- Joss, Shelagh
- Pölsler, Laura
- Campeau, Philippe M.
- Blazo, Maria
- Bijlsma, Emilia K.
- Rosenfeld, Jill A.
- Beetz, Christian
- Powis, Zöe
- McWalter, Kirsty
- Brandt, Tracy
- Torti, Erin
- Mathot, Mikaël
- Mohammad, Shekeeb S.
- Armstrong, Ruth
- Kalscheuer, Vera M.
2023
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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
2020
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Archives of disease in childhood. Education and practice edition, 2020-04, Vol.105 (2), p.94-96
2020
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BJC Reports, 2023-06, Vol.1 (1), Article 1
2023
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Journal of medical genetics, 2024-09, p.jmg-2024-110228
- Ellard, Sian
- Morgan, Sian
- Wynn, Sarah L
- Walker, Susan
- Parrish, Andrew
- Mein, Rachael
- Juett, Ana
- Ahn, Joo Wook
- Berry, Ian
- Cassidy, Emma-Jane
- Durkie, Miranda
- Fish, Louise
- Hall, Richard
- Howard, Emma
- Rankin, Julia
- Wright, Caroline F
- Deans, Zandra C
- Scott, Richard H
- Hill, Sue L
- Baple, Emma L
- Taylor, Robert W
- Baty, David
- Berg, Jonathan
- Blair, Edward
- Bowdin, Sarah
- Bownass, Lucy
- Bradley, Therese
- Campbell, Jennifer
- Charlton, Ruth
- Clouston, Penny
- Constantinou, Panayiotis
- Cooper, Nicola
- Delon, Isabelle
- Downes, Kate
- Ellis, David
- Elmslie, Frances
- Ghali, Neeti
- Hagan, Richard
- Heggarty, Shirley
- Higgs, Jennifer
- Hunt, David
- Jenkins, Lucy
- McAnulty, Ciaron
- McCann, Emma
- McDevitt, Trudi
- McMullan, Dominic
- Miedzybrodzka, Zosia
- Moore, David
- Newman, William
- O’Sullivan, Dawn
- Parker, Michael
- Porteous, Mary
- Ramsden, Simon
- Rea, Gillian
- Ruddy, Deborah
- Ryan, Gavin
- Sarkar, Ajoy
- Sheridan, Eamonn
- Short, John
- Thomas, Ellen
- Thomas, Simon
- Varghese, Vinod
- Vasudevan, Pradeep
- Wakeling, Emma
- Williams, Angharad
- Wright, Michael
2024
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European journal of heart failure, 2024-01, Vol.26 (1), p.46-55
- Jones, Richard E.
- Hammersley, Daniel J.
- Zheng, Sean
- McGurk, Kathryn A.
- Marvao, Antonio
- Theotokis, Pantazis I.
- Owen, Ruth
- Tayal, Upasana
- Rea, Gillian
- Hatipoglu, Suzan
- Buchan, Rachel J.
- Mach, Lukas
- Curran, Lara
- Lota, Amrit S.
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- Reddy, Rohin K.
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- Yoon, Won Young
- Vazir, Ali
- Pennell, Dudley J.
- O'Regan, Declan P.
- Baksi, A. John
- Halliday, Brian P.
- Ware, James S.
- Prasad, Sanjay K.
2024
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Journal of medical genetics, 2024-02, Vol.61 (2), p.142-149
- Kohut, Kelly
- Speight, Beverley
- Young, Julie
- Way, Rosalind
- Eccles, Diana M
- Foster, Claire
- Turner, Lesley
- Snape, Katie
- Dale, Caroline
- Duncombe, Sue
- Gold, Rochelle
- Patton, Sonia
- Rook, Warren
- Stevens, Richard
- Vale, Frankie
- White, Helen
- Woodward, Ivan
- Worrall, Steve
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- Bartlett, Marion
- Barwell, Julian
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- Brain, Lydia
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- Clark, Andrew
- Clarke, Emily
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- Chauhan, Dharmisha
- Coad, Beth
- Coulson, Alice
- Cowley, Lorraine
- Crosskey, Howard
- Cuthill, Vicky
- Dave, Ajay
- Davidson, Rosemarie
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- Dunlop, Jacqueline
- Eccles, Diana
- Elliot, Courtney
- Engelbrecht, Clair
- Freeman, Alexandra
- Gibson, Sarah
- Gomes, Joana
- Gorrie, Jennifer
- Halliday, Dorothy
- Hanson, Helen
- Hiscock, Diane
- James, Margaret
- Jacobs-Pearson, Makaela
- Jaggard, Charlotte
- Jewell, Rosalyn
- John, Siobhan
- Johnes, Annie
- Jones, Lynne
- Kharay, Bhavana
- Kulke, Claire
- Large, Joanna
- Lewis, Celine
- Lowry, Anne
- MacParland, Sianan
- Mansell, Martin
- Martin, Charlotte
- Martin, Richard
- McKeeve, Claire
- McVeigh, Terri
- Miles, Tracie
- Monahan, Kevin
- Monje-Garcia, Laura
- Murray, Alex
- Musgrave, Hannah
- Ong, Kai Ren
- Onyeador, Nicola
- Ostrowski, Phil
- Raghavan, Manoj
- Reid, Alistair
- Salter, Sarah
- Scott, Gillian
- Scrace, Collette
- Searle, Claire
- Shanmugasundaram, Monisha
- Smith, Katherine
- Snadden, Lelsey
- Stayner, Barbara
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- Torr, Bethany
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2024
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Genetics in medicine, 2021-02, Vol.23 (2), p.408-414
2021
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Genes, 2022-06, Vol.13 (7), p.1104
2022
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Genetics in medicine, 2024-02, Vol.26 (2), p.101023, Article 101023
- Mis, Emily K.
- Brodsky, Nina N.
- Ionita, Cristian
- Darbinyan, Armine
- Drummond-Borg, Margaret
- McGee, Elisabeth
- Nugent, Kimberly
- Ortega, Lucy
- Goodkin, Howard P.
- Sapp, Katie
- McKee, Shane
- Rea, Gillian
- Cooper, Nicola
- O’Driscoll, Mary
- Scurr, Ingrid
- Abbs, Steve
- Armstrong, Ruth
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- Green, Andrew
- Cleary, Elaine
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- Castle, Bruce
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- Izatt, Louise
- Roworth, Wendy
- Yau, Shu
- Jewell, Rosalyn
- Sarkar, Ajoy
- Canham, Natalie
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- Jones, Elizabeth
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- Henderson, Alex
- Allen, Zoe
- Bernhard, Birgitta
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- Clowes, Virginia
- Blair, Edward
- Stewart, Alison
- Kamath, Arveen
- Halai, D.
- Holman, J.E.
- Jackson, R.
- Lopez, F.J.
- Rogers, T.
- Savage, K.
- Sieghart, A.
- Thomas, E.R.A.
- Thompson, S.R.
- Tucci, A.
- Alejandro, Mercedes E.
- Amendola, Laura
- Andrews, Ashley
- Bademci, Guney
- Baker, Eva
- Baldridge, Dustin
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Botto, Lorenzo
- Coakley, Terra R.
- Coggins, Matthew
- Cooper, Cynthia M.
- Cunningham, Michael
- Dai, Hongzheng
- Duncan, Laura
- Fieg, Elizabeth L.
- Forghani, Irman
- Hahn, Sihoun
- Hanchard, Neil A.
- Hayes, Nichole
- High, Frances
- Hisama, Fuki M.
- Holm, Ingrid A.
- Jamal, Fariha
- Kennedy, Jennifer
- LeBlanc, Kimberly
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Mak, Bryan
- McCauley, Jacob
- Nickerson, Deborah
- Nieves-Rodriguez, Shirley
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- Pace, Laura
- Potocki, Lorraine
- Quinlan, Aaron
- Raja, Archana N.
- Robertson, Amy K.
- Rodan, Lance H.
- Saporta, Mario
- Schaechter, Judy
- Signer, Rebecca
- Solem, Emily
- Solnica-Krezel, Lilianna
- Sutton, Shirley
- Velinder, Matt
- Wheeler, Matthew T.
- Khokha, Mustafa K.
2024
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.638-643
2019
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2017
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Heart (British Cardiac Society), 2015-06, Vol.101 (Suppl 4), p.A97-A98
2015
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Heart (British Cardiac Society), 2015-06, Vol.101 (Suppl 4), p.A97-A98
2015
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Neurology. Genetics, 2020-04, Vol.6 (2), p.e399-e399
- Chelban, Viorica
- Carecchio, Miryam
- Rea, Gillian
- Bowirrat, Abdalla
- Kirmani, Salman
- Magistrelli, Luca
- Efthymiou, Stephanie
- Schottlaender, Lucia
- Vandrovcova, Jana
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- Chiapparini, Luisa
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- Khan, Fatima
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- Groppa, Stanislav
- Bajaj, Nin
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- Bhatia, Kailash P
- Lees, Andrew
- Morrison, Patrick J
- Wood, Nicholas W
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- Houlden, Henry
2020
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Biomarkers in medicine, 2013-08, Vol.7 (4), p.547-563
2013
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Dental update, 2015-12, Vol.42 (10), p.927-932
2015
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