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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...The Journal of clinical investigation, 2017-05, Vol.127 (5), p.1700-1713
- Buonocore, Federica
- Kühnen, Peter
- Suntharalingham, Jenifer P
- Del Valle, Ignacio
- Digweed, Martin
- Stachelscheid, Harald
- Khajavi, Noushafarin
- Didi, Mohammed
- Brady, Angela F
- Blankenstein, Oliver
- Procter, Annie M
- Dimitri, Paul
- Wales, Jerry K H
- Ghirri, Paolo
- Knöbl, Dieter
- Strahm, Brigitte
- Erlacher, Miriam
- Wlodarski, Marcin W
- Chen, Wei
- Kokai, George K
- Anderson, Glenn
- Morrogh, Deborah
- Moulding, Dale A
- McKee, Shane A
- Niemeyer, Charlotte M
- Grüters, Annette
- Achermann, John C
2017
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American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2231-2237
2015
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Journal of medical genetics, 2022-06, Vol.59 (6), p.613-622
2022
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Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.107-107, Article 107
2020
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American journal of human genetics, 2019-04, Vol.104 (4), p.596-610
2019
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American journal of human genetics, 2016-09, Vol.99 (3), p.683-694
- Muona, Mikko
- Ishimura, Ryosuke
- Laari, Anni
- Ichimura, Yoshinobu
- Linnankivi, Tarja
- Keski-Filppula, Riikka
- Herva, Riitta
- Rantala, Heikki
- Paetau, Anders
- Pöyhönen, Minna
- Obata, Miki
- Uemura, Takefumi
- Karhu, Thomas
- Bizen, Norihisa
- Takebayashi, Hirohide
- McKee, Shane
- Parker, Michael J.
- Akawi, Nadia
- McRae, Jeremy
- Hurles, Matthew E.
- Kuismin, Outi
- Kurki, Mitja I.
- Anttonen, Anna-Kaisa
- Tanaka, Keiji
- Palotie, Aarno
- Waguri, Satoshi
- Lehesjoki, Anna-Elina
- Komatsu, Masaaki
2016
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Clinical genetics, 2019-07, Vol.96 (1), p.72-84
2019
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American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.959-964
- Balachandar, Srimmitha
- Graves, Tamara J.
- Shimonty, Anika
- Kerr, Katie
- Kilner, Jill
- Xiao, Sihao
- Slade, Richard
- Sroya, Manveer
- Alikian, Mary
- Curetean, Emanuel
- Thomas, Ellen
- McConnell, Vivienne P. M.
- McKee, Shane
- Boardman‐Pretty, Freya
- Devereau, Andrew
- Fowler, Tom A.
- Caulfield, Mark J.
- Alton, Eric W.
- Ferguson, Teena
- Redhead, Julian
- McKnight, Amy J.
- Thomas, Geraldine A.
- Aldred, Micheala A.
- Shovlin, Claire L.
2022
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BMJ open, 2024-09, Vol.14 (9), p.e075590
2024
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Clinical genetics, 2019-06, Vol.95 (6), p.693-703
- Pagnamenta, Alistair T.
- Kaisaki, Pamela J.
- Bennett, Fenella
- Burkitt‐Wright, Emma
- Martin, Hilary C.
- Ferla, Matteo P.
- Taylor, John M.
- Gompertz, Lianne
- Lahiri, Nayana
- Tatton‐Brown, Katrina
- Newbury‐Ecob, Ruth
- Henderson, Alex
- Joss, Shelagh
- Weber, Astrid
- Carmichael, Jenny
- Turnpenny, Peter D.
- McKee, Shane
- Forzano, Francesca
- Ashraf, Tazeen
- Bradbury, Kimberley
- Shears, Deborah
- Kini, Usha
- de Burca, Anna
- Blair, Edward
- Taylor, Jenny C.
- Stewart, Helen
2019
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BMJ open, 2023-08, Vol.13 (8), p.e073677
2023
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.557-564
- Ostrowski, Philip J.
- Zachariou, Anna
- Loveday, Chey
- Beleza‐Meireles, Ana
- Bertoli, Marta
- Dean, John
- Douglas, Andrew G. L.
- Ellis, Ian
- Foster, Alison
- Graham, John M.
- Hague, Jennifer
- Hilhorst‐Hofstee, Yvonne
- Hoffer, Mariette
- Johnson, Diana
- Josifova, Dragana
- Kant, Sarina G.
- Kini, Usha
- Lachlan, Katherine
- Lam, Wayne
- Lees, Melissa
- Lynch, Sally
- Maitz, Silvia
- McKee, Shane
- Metcalfe, Kay
- Nathanson, Katherine
- Ockeloen, Charlotte W.
- Parker, Michael J.
- Pierson, Tyler M.
- Rahikkala, Elisa
- Sanchez‐Lara, Pedro A.
- Spano, Alice
- Van Maldergem, Lionel
- Cole, Trevor
- Douzgou, Sofia
- Tatton‐Brown, Katrina
2019
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Genetics in medicine, 2020-05, Vol.22 (5), p.878-888
- Shieh, Christine
- Jones, Natasha
- Vanle, Brigitte
- Au, Margaret
- Huang, Alden Y
- Silva, Ana P G
- Lee, Hane
- Douine, Emilie D
- Otero, Maria G
- Choi, Andrew
- Grand, Katheryn
- Taff, Ingrid P
- Delgado, Mauricio R
- Hajianpour, M J
- Seeley, Andrea
- Rohena, Luis
- Vernon, Hilary
- Gripp, Karen W
- Vergano, Samantha A
- Mahida, Sonal
- Naidu, Sakkubai
- Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta
- Wain, Karen E
- Challman, Thomas D
- Beek, Geoffrey
- Basel, Donald
- Ranells, Judith
- Smith, Rosemarie
- Yusupov, Roman
- Freckmann, Mary-Louise
- Ohden, Lisa
- Davis-Keppen, Laura
- Chitayat, David
- Dowling, James J
- Finkel, Richard
- Dauber, Andrew
- Spillmann, Rebecca
- Pena, Loren D M
- Metcalfe, Kay
- Splitt, Miranda
- Lachlan, Katherine
- McKee, Shane A
- Hurst, Jane
- Fitzpatrick, David R
- Morton, Jenny E V
- Cox, Helen
- Venkateswaran, Sunita
- Young, Juan I
- Marsh, Eric D
- Nelson, Stanley F
- Martinez, Julian A
- Graham, John M
- Kini, Usha
- Mackay, Joel P
- Pierson, Tyler Mark
2020
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Genetics in medicine, 2017-08, Vol.19 (8), p.900-908
- Bengani, Hemant
- Handley, Mark
- Alvi, Mohsan
- Ibitoye, Rita
- Lees, Melissa
- Lynch, Sally Ann
- Lam, Wayne
- Fannemel, Madeleine
- Nordgren, Ann
- Malmgren, H.
- Kvarnung, M.
- Mehta, Sarju
- McKee, Shane
- Whiteford, Margo
- Stewart, Fiona
- Connell, Fiona
- Clayton-Smith, Jill
- Mansour, Sahar
- Mohammed, Shehla
- Fryer, Alan
- Morton, Jenny
- Grozeva, Detelina
- Asam, Tara
- Moore, David
- Sifrim, Alejandro
- McRae, Jeremy
- Hurles, Matthew E.
- Firth, Helen V.
- Raymond, F. Lucy
- Kini, Usha
- Nellåker, Christoffer
- FitzPatrick, David R.
2017
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American journal of human genetics, 2007-08, Vol.81 (2), p.292-303
2007
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PLOS global public health, 2023, Vol.3 (4), p.e0001795-e0001795
2023
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Genetics in medicine, 2020-05, Vol.22 (5), p.878-888
- Shieh, Christine
- Jones, Natasha
- Vanle Brigitte
- Au, Margaret
- Huang, Alden Y
- Silva, Ana P
- Hane, Lee
- Douine, Emilie D
- Otero, Maria G
- Choi, Andrew
- Grand Katheryn
- Taff, Ingrid P
- Delgado, Mauricio R
- Hajianpour, M J
- Seeley, Andrea
- Rohena Luis
- Vernon, Hilary
- Gripp, Karen W
- Vergano Samantha A
- Mahida Sonal
- Naidu Sakkubai
- Sousa, Ana Berta
- Wain, Karen E
- Challman, Thomas D
- Beek, Geoffrey
- Basel Donald
- Ranells, Judith
- Smith, Rosemarie
- Yusupov Roman
- Mary-Louise, Freckmann
- Ohden Lisa
- Davis-Keppen, Laura
- Chitayat, David
- Dowling, James J
- Finkel, Richard
- Dauber, Andrew
- Spillmann, Rebecca
- Pena Loren D M
- Metcalfe, Kay
- Splitt Miranda
- Lachlan, Katherine
- McKee, Shane A
- Hurst, Jane
- Fitzpatrick, David R
- Morton, Jenny E
- Cox, Helen
- Venkateswaran Sunita
- Young, Juan I
- Marsh, Eric D
- Nelson, Stanley F
- Martinez, Julian A
- Graham, John M
- Kini Usha
- Mackay, Joel P
- Pierson, Tyler Mark
2020
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The oncologist (Dayton, Ohio), 2012-07, Vol.17 (7), p.925-926
2012
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Human molecular genetics, 1999-04, Vol.8 (4), p.607-610
1999
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Orphanet journal of rare diseases, 2014-03, Vol.9 (1), p.43-43, Article 43
2014
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Ulster medical journal, 2017-01, Vol.86 (1), p.1-2
2017
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BMC pediatrics, 2012-05, Vol.12 (1), p.48-48, Article 48
2012
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Ulster medical journal, 2016-09, Vol.85 (3), p.221-222
2016
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Empirical software engineering : an international journal, 2019-10, Vol.24 (5), p.2863-2906
2019
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The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314
- Wright, Caroline F, Dr
- Fitzgerald, Tomas W, MS
- Jones, Wendy D, MBBS
- Clayton, Stephen, MRes
- McRae, Jeremy F, PhD
- van Kogelenberg, Margriet, PhD
- King, Daniel A, MD
- Ambridge, Kirsty, BSc
- Barrett, Daniel M, BSc
- Bayzetinova, Tanya, BSc
- Bevan, A Paul, PhD
- Bragin, Eugene, MSc
- Chatzimichali, Eleni A, PhD
- Gribble, Susan, PhD
- Jones, Philip, MSc
- Krishnappa, Netravathi, MSc
- Mason, Laura E, BSc
- Miller, Ray, PhD
- Morley, Katherine I, PhD
- Parthiban, Vijaya, PhD
- Prigmore, Elena, PhD
- Rajan, Diana, MSc
- Sifrim, Alejandro, PhD
- Swaminathan, G Jawahar, PhD
- Tivey, Adrian R, MSc
- Middleton, Anna, PhD
- Parker, Michael, Prof
- Carter, Nigel P, PhD
- Barrett, Jeffrey C, PhD
- Hurles, Matthew E, PhD
- FitzPatrick, David R, Prof
- Firth, Helen V, DM
2015
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