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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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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, 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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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
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- Miller, Ray, PhD
- Morley, Katherine I, PhD
- Parthiban, Vijaya, PhD
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- 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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Human molecular genetics, 1999-04, Vol.8 (4), p.607-610
1999
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Journal of medical genetics, 2010-07, Vol.47 (7), p.436-444
2010
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Human mutation, 2013-11, Vol.34 (11), p.1519-1528
- Santen, Gijs W.E.
- Aten, Emmelien
- Vulto-van Silfhout, Anneke T.
- Pottinger, Caroline
- van Bon, Bregje W.M.
- van Minderhout, Ivonne J.H.M.
- Snowdowne, Ronelle
- van der Lans, Christian A.C.
- Boogaard, Merel
- Linssen, Margot M.L.
- Vijfhuizen, Linda
- van der Wielen, Michiel J.R.
- Vollebregt, M.J. (Ellen)
- Breuning, Martijn H.
- Kriek, Marjolein
- van Haeringen, Arie
- den Dunnen, Johan T.
- Hoischen, Alexander
- Clayton-Smith, Jill
- de Vries, Bert B.A.
- Hennekam, Raoul C.M.
- van Belzen, Martine J.
- Almureikhi, Mariam
- Baban, Anwar
- Barbosa, Mafalda
- Ben-Omran, Tawfeg
- Berry, Katherine
- Bigoni, Stefania
- Boute, Odile
- Brueton, Louise
- van der Burgt, Ineke
- Canham, Natalie
- Chandler, Kate E.
- Chrzanowska, Krystyna
- Collins, Amanda L.
- de Toni, Teresa
- Dean, John
- den Hollander, Nicolette S.
- Flore, Leigh Anne
- Fryer, Alan
- Gardham, Alice
- Graham Jr, John M.
- Harrison, Victoria
- Horn, Denise
- Jongmans, Marjolijn C.
- Josifova, Dragana
- Kant, Sarina G.
- Kapoor, Seema
- Kingston, Helen
- Kini, Usha
- Kleefstra, Tjitske
- Krajewska-Walasek, Małgorzata
- Kramer, Nancy
- Maas, Saskia M.
- Maciel, Patricia
- Mancini, Grazia M.S.
- Maystadt, Isabelle
- McKee, Shane
- Milunsky, Jeff M.
- Nampoothiri, Sheela
- Newbury-Ecob, Ruth
- Nikkel, Sarah M.
- Parker, Michael J.
- Pérez-Jurado, Luis A.
- Robertson, Stephen P.
- Rooryck, Caroline
- Shears, Debbie
- Silengo, Margherita
- Singh, Ankur
- Smigiel, Robert
- Soares, Gabriela
- Splitt, Miranda
- Stewart, Helen
- Sweeney, Elizabeth
- Tassabehji, May
- Tuysuz, Beyhan
- van Eerde, Albertien M.
- Vincent-Delorme, Catherine
- Wilson, Louise C.
- Yesil, Gozde
2013
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American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289
2014
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American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.296-312
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- Oojageer, Anthony
- Anderson, Beverley
- Helman, Guy
- Abdel-Salam, Ghada M.
- Aeby, Alec
- Agosta, Guillermo
- Albin, Catherine
- Allon-Shalev, Stavit
- Arellano, Montse
- Ariaudo, Giada
- Aswani, Vijay
- Babul-Hirji, Riyana
- Bahi-Buisson, Nadia
- Bailey, Kathryn M.
- Barth, Magalie
- Battini, Roberta
- Beresford, Michael W.
- Bernard, Geneviève
- Bianchi, Marika
- Blair, Edward M.
- Burlina, Alberto B.
- Luisa Carpanelli, Maria
- Castro-Gago, Manuel
- Cavallini, Anna
- Cereda, Cristina
- Chandler, Kate E.
- Chitayat, David A.
- Collins, Abigail E.
- Sierra Corcoles, Concepcion
- Cordeiro, Nuno J.V.
- Crichiutti, Giovanni
- Dabydeen, Lyvia
- Dale, Russell C.
- De Goede, Christian G.E.L.
- De Laet, Corinne
- De Waele, Liesbeth M.H.
- Desguerre, Isabelle
- Devriendt, Koenraad
- Fazzi, Elisa
- Figueiredo, António
- Gener, Blanca
- Goizet, Cyril
- Gowrishankar, Kalpana
- Hanrahan, Donncha
- Isidor, Bertrand
- Khan, Nasaim
- King, Mary D.
- Kumar, Ram
- Landrieu, Pierre
- Lauffer, Heinz
- Laugel, Vincent
- Lim, Ming J.
- Lin, Jean-Pierre S.-M.
- Linnankivi, Tarja
- Mackay, Mark T.
- Marom, Daphna R.
- McKee, Shane A.
- Murray, Kevin
- Nabbout, Rima
- Nampoothiri, Sheela
- Nunez-Enamorado, Noemi
- Oades, Patrick J.
- Ostergaard, John R.
- Pérez-Dueñas, Belén
- Prendiville, Julie S.
- Rasmussen, Magnhild
- Ricci, Federica
- Rio, Marlène
- Rodriguez, Diana
- Roubertie, Agathe
- Sinha, Gyanranjan P.
- Soler, Doriette
- Spiegel, Ronen
- Stödberg, Tommy I.
- Straussberg, Rachel
- Suri, Mohnish
- Tan, Tiong Y.
- te Water Naude, Johann
- Maria Valente, Enza
- van der Knaap, Marjo S.
- Vassallo, Grace
- Vijzelaar, Raymon
- Wallace, Geoffrey B.
- Wassmer, Evangeline
- Webb, Hannah J.
- Whitehouse, William P.
- Whitney, Robyn N.
- Zaki, Maha S.
- Zuberi, Sameer M.
- Livingston, John H.
- Rozenberg, Flore
- Vanderver, Adeline
- Orcesi, Simona
- Rice, Gillian I.
2015
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Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668
- Ansari, Morad
- Poke, Gemma
- Ferry, Quentin
- Williamson, Kathleen
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- Chan, Cheng Yee
- Kayserili, Hülya
- Avci, Şahin
- Hennekam, Raoul C M
- Lampe, Anne K
- Redeker, Egbert
- Homfray, Tessa
- Ross, Alison
- Falkenberg Smeland, Marie
- Mansour, Sahar
- Parker, Michael J
- Cook, Jacqueline A
- Splitt, Miranda
- Fisher, Richard B
- Fryer, Alan
- Magee, Alex C
- Wilkie, Andrew
- Barnicoat, Angela
- Brady, Angela F
- Cooper, Nicola S
- Mercer, Catherine
- Deshpande, Charu
- Bennett, Christopher P
- Pilz, Daniela T
- Ruddy, Deborah
- Cilliers, Deirdre
- Johnson, Diana S
- Josifova, Dragana
- Rosser, Elisabeth
- Thompson, Elizabeth M
- Wakeling, Emma
- Kinning, Esther
- Stewart, Fiona
- Flinter, Frances
- Girisha, Katta M
- Cox, Helen
- Firth, Helen V
- Kingston, Helen
- Wee, Jamie S
- Hurst, Jane A
- Clayton-Smith, Jill
- Tolmie, John
- Vogt, Julie
- Tatton–Brown, Katrina
- Chandler, Kate
- Prescott, Katrina
- Wilson, Louise
- Behnam, Mahdiyeh
- McEntagart, Meriel
- Davidson, Rosemarie
- Lynch, Sally-Ann
- Sisodiya, Sanjay
- Mehta, Sarju G
- McKee, Shane A
- Mohammed, Shehla
- Holden, Simon
- Park, Soo-Mi
- Holder, Susan E
- Harrison, Victoria
- McConnell, Vivienne
- Lam, Wayne K
- Green, Andrew J
- Donnai, Dian
- Bitner-Glindzicz, Maria
- Donnelly, Deirdre E
- Nellåker, Christoffer
- Taylor, Martin S
- FitzPatrick, David R
2014
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The Journal of clinical investigation, 2017-05, Vol.127 (5)
- Buonocore, Federica
- Kuhnen, 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
- Knobl, 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
- Gruters, Annette
- Achermann, John C
2017
Volltextzugriff (PDF)
Genetics in medicine, 2020-04, Vol.22 (4), p.822-822
- 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
- Sousa, 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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Clinical dysmorphology, 2001-07, Vol.10 (3), p.177-180
2001
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Surgery, 2000-12, Vol.128 (6), p.1022-1028
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Arthritis and rheumatism, 2003-09, Vol.48 (9), p.2632-2644
- Aganna, Ebun
- Hammond, Linda
- Hawkins, Philip N.
- Aldea, Anna
- McKee, Shane A.
- van Amstel, Hans Kristian Ploos
- Mischung, Claudia
- Kusuhara, Koichi
- Saulsbury, Frank T.
- Lachmann, Helen J.
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- La Regina, Micaela
- Arostegui, Juan I.
- Campistol, Josep M.
- Worthington, Sharron
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- Molloy, Michael G.
- Baker, Nicholas
- Bidwell, Jeff L.
- Castañer, José L.
- Whiteford, Margo L.
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- McDermott, Michael F.
2003
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Surgery, 2000, Vol.128 (6), p.1022-1028
2000
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Journal of bone and mineral research, 2007-10, Vol.22 (10), p.1479-1491
- Khosla, Sundeep
- Burr, David
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- Gagel, Robert F
- Gilsanz, Vincente
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- McCauley, Laurie K
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- Pendrys, David G
- Raisz, Lawrence G
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- Shane, Elizabeth
2007
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Cell reports (Cambridge), 2018-10, Vol.25 (1), p.1-9.e5
2018
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The Lancet (British edition), 2016-01, Vol.387 (10013), p.61-69
- Khatib, Rasha, PhD
- McKee, Martin, Prof
- Shannon, Harry, Prof
- Chow, Clara, PhD
- Rangarajan, Sumathy, MSc
- Teo, Koon, Prof
- Wei, Li, Prof
- Mony, Prem, MD
- Mohan, Viswanathan, MD
- Gupta, Rajeev, PhD
- Kumar, Rajesh, MD
- Vijayakumar, Krishnapillai, Prof
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- Diaz, Rafael, MD
- Avezum, Alvaro, PhD
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- Lanas, Fernando, MD
- Yusoff, Khalid, Prof
- Ismail, Noorhassim, MD
- Kazmi, Khawar, MBBS
- Rahman, Omar, Prof
- Rosengren, Annika, Prof
- Monsef, Nahed, MD
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- Kruger, Annamarie, Prof
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- Chifamba, Jephat, PhD
- Temizhan, Ahmet, MD
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2016
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BMJ open, 2024-09, Vol.14 (9), p.e075590
2024
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BMJ open, 2023-08, Vol.13 (8), p.e073677
2023
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Ulster medical journal, 2017-01, Vol.86 (1), p.1-2
2017
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American journal of human genetics, 2019-04, Vol.104 (4), p.596-610
2019
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