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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, 2018-04, Vol.128 (4), p.1496-1508
- Al-Olabi, Lara
- Polubothu, Satyamaanasa
- Dowsett, Katherine
- Andrews, Katrina A
- Stadnik, Paulina
- Joseph, Agnel P
- Knox, Rachel
- Pittman, Alan
- Clark, Graeme
- Baird, William
- Bulstrode, Neil
- Glover, Mary
- Gordon, Kristiana
- Hargrave, Darren
- Huson, Susan M
- Jacques, Thomas S
- James, Gregory
- Kondolf, Hannah
- Kangesu, Loshan
- Keppler-Noreuil, Kim M
- Khan, Amjad
- Lindhurst, Marjorie J
- Lipson, Mark
- Mansour, Sahar
- O'Hara, Justine
- Mahon, Caroline
- Mosica, Anda
- Moss, Celia
- Murthy, Aditi
- Ong, Juling
- Parker, Victoria E
- Rivière, Jean-Baptiste
- Sapp, Julie C
- Sebire, Neil J
- Shah, Rahul
- Sivakumar, Branavan
- Thomas, Anna
- Virasami, Alex
- Waelchli, Regula
- Zeng, Zhiqiang
- Biesecker, Leslie G
- Barnacle, Alex
- Topf, Maya
- Semple, Robert K
- Patton, E Elizabeth
- Kinsler, Veronica A
2018
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Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D966-D974
- Köhler, Sebastian
- Doelken, Sandra C
- Mungall, Christopher J
- Bauer, Sebastian
- Firth, Helen V
- Bailleul-Forestier, Isabelle
- Black, Graeme C M
- Brown, Danielle L
- Brudno, Michael
- Campbell, Jennifer
- FitzPatrick, David R
- Eppig, Janan T
- Jackson, Andrew P
- Freson, Kathleen
- Girdea, Marta
- Helbig, Ingo
- Hurst, Jane A
- Jähn, Johanna
- Jackson, Laird G
- Kelly, Anne M
- Ledbetter, David H
- Mansour, Sahar
- Martin, Christa L
- Moss, Celia
- Mumford, Andrew
- Ouwehand, Willem H
- Park, Soo-Mi
- Riggs, Erin Rooney
- Scott, Richard H
- Sisodiya, Sanjay
- Van Vooren, Steven
- Wapner, Ronald J
- Wilkie, Andrew O M
- Wright, Caroline F
- Vulto-van Silfhout, Anneke T
- de Leeuw, Nicole
- de Vries, Bert B A
- Washingthon, Nicole L
- Smith, Cynthia L
- Westerfield, Monte
- Schofield, Paul
- Ruef, Barbara J
- Gkoutos, Georgios V
- Haendel, Melissa
- Smedley, Damian
- Lewis, Suzanna E
- Robinson, Peter N
2014
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Nature genetics, 2013-11, Vol.45 (11), p.1300-1308
- Cappello, Silvia
- Gray, Mary J
- Badouel, Caroline
- Lange, Simona
- Einsiedler, Melanie
- Srour, Myriam
- Chitayat, David
- Hamdan, Fadi F
- Jenkins, Zandra A
- Morgan, Tim
- Preitner, Nadia
- Uster, Tami
- Thomas, Jackie
- Shannon, Patrick
- Morrison, Victoria
- Di Donato, Nataliya
- Van Maldergem, Lionel
- Neuhann, Teresa
- Newbury-Ecob, Ruth
- Swinkells, Marielle
- Terhal, Paulien
- Wilson, Louise C
- Zwijnenburg, Petra J G
- Sutherland-Smith, Andrew J
- Black, Michael A
- Markie, David
- Michaud, Jacques L
- Simpson, Michael A
- Mansour, Sahar
- McNeill, Helen
- Götz, Magdalena
- Robertson, Stephen P
2013
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Acta neuropathologica, 2020-05, Vol.139 (5), p.947-951
2020
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European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.291-297
- Forde, Claire
- Burkitt-Wright, Emma
- Turnpenny, Peter D
- Haan, Eric
- Ealing, John
- Mansour, Sahar
- Holder, Muriel
- Lahiri, Nayana
- Dixit, Abhijit
- Procter, Annie
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- Vidaud, Dominique
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- Gerard, Marion
- Dollfus, Hélène
- Schaefer, Elise
- Quelin, Chloé
- Sigaudy, Sabine
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- Vera, Gabriella
- Damaj, Lena
- Messiaen, Ludwine
- Stevenson, David A
- Davies, Peter
- Palmer-Smith, Sheila
- Callaway, Alison
- Wolkenstein, Pierre
- Pasmant, Eric
- Upadhyaya, Meena
2022
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Nature medicine, 2023-03, Vol.29 (3), p.679-688
- Greene, Daniel
- Pirri, Daniela
- Frudd, Karen
- Sackey, Ege
- Al-Owain, Mohammed
- Giese, Arnaud P. J.
- Ramzan, Khushnooda
- Riaz, Sehar
- Yamanaka, Itaru
- Boeckx, Nele
- Thys, Chantal
- Gelb, Bruce D.
- Brennan, Paul
- Hartill, Verity
- Harvengt, Julie
- Kosho, Tomoki
- Mansour, Sahar
- Masuno, Mitsuo
- Ohata, Takako
- Stewart, Helen
- Taibah, Khalid
- Turner, Claire L. S.
- Imtiaz, Faiqa
- Riazuddin, Saima
- Morisaki, Takayuki
- Ostergaard, Pia
- Loeys, Bart L.
- Morisaki, Hiroko
- Ahmed, Zubair M.
- Birdsey, Graeme M.
- Freson, Kathleen
- Mumford, Andrew
- Turro, Ernest
2023
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Scientific reports, 2022-11, Vol.12 (1), p.20693-20693, Article 20693
2022
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European journal of radiology, 2015-06, Vol.84 (6), p.1049-1055
2015
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The Journal of clinical investigation, 2016-08, Vol.126 (8), p.3080-3088
- Martin-Almedina, Silvia
- Martinez-Corral, Ines
- Holdhus, Rita
- Vicente, Andres
- Fotiou, Elisavet
- Lin, Shin
- Petersen, Kjell
- Simpson, Michael A
- Hoischen, Alexander
- Gilissen, Christian
- Jeffery, Heather
- Atton, Giles
- Karapouliou, Christina
- Brice, Glen
- Gordon, Kristiana
- Wiseman, John W
- Wedin, Marianne
- Rockson, Stanley G
- Jeffery, Steve
- Mortimer, Peter S
- Snyder, Michael P
- Berland, Siren
- Mansour, Sahar
- Makinen, Taija
- Ostergaard, Pia
2016
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European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679
2017
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Prenatal diagnosis, 2011-02, Vol.31 (2), p.186-195
2011
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.502-508
- Foster, Alison
- Zachariou, Anna
- Loveday, Chey
- Ashraf, Tazeen
- Blair, Edward
- Clayton‐Smith, Jill
- Dorkins, Huw
- Fryer, Alan
- Gener, Blanca
- Goudie, David
- Henderson, Alex
- Irving, Melita
- Joss, Shelagh
- Keeley, Vaughan
- Lahiri, Nayana
- Lynch, Sally Ann
- Mansour, Sahar
- McCann, Emma
- Morton, Jenny
- Motton, Nicole
- Murray, Alexandra
- Riches, Katie
- Shears, Deborah
- Stark, Zornitza
- Thompson, Elizabeth
- Vogt, Julie
- Wright, Michael
- Cole, Trevor
- Tatton‐Brown, Katrina
2019
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Archives of physiology and biochemistry, 2023-07, Vol.129 (4), p.964-974
2023
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Journal of Hand Surgery (European Volume), 2019-01, Vol.44 (1), p.96-108
2019
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The Journal of experimental medicine, 2017-08, Vol.214 (8), p.2437-2452
- Lyons, Oliver
- Saha, Prakash
- Seet, Christopher
- Kuchta, Adam
- Arnold, Andrew
- Grover, Steven
- Rashbrook, Victoria
- Sabine, Amélie
- Vizcay-Barrena, Gema
- Patel, Ash
- Ludwinski, Francesca
- Padayachee, Soundrie
- Kume, Tsutomu
- Kwak, Brenda R
- Brice, Glen
- Mansour, Sahar
- Ostergaard, Pia
- Mortimer, Peter
- Jeffery, Steve
- Brown, Nigel
- Makinen, Taija
- Petrova, Tatiana V
- Modarai, Bijan
- Smith, Alberto
2017
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The Journal of clinical investigation, 2014-07, Vol.124 (7), p.3137-3146
- Baple, Emma L
- Chambers, Helen
- Cross, Harold E
- Fawcett, Heather
- Nakazawa, Yuka
- Chioza, Barry A
- Harlalka, Gaurav V
- Mansour, Sahar
- Sreekantan-Nair, Ajith
- Patton, Michael A
- Muggenthaler, Martina
- Rich, Phillip
- Wagner, Karin
- Coblentz, Roselyn
- Stein, Constance K
- Last, James I
- Taylor, A Malcolm R
- Jackson, Andrew P
- Ogi, Tomoo
- Lehmann, Alan R
- Green, Catherine M
- Crosby, Andrew H
2014
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Frontiers in immunology, 2023, Vol.14, p.1279077-1279077
2023
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BMJ open, 2021-09, Vol.11 (9), p.e049386-e049386
- Wolstencroft, Jeanne
- Hull, Laura
- Warner, Lauren
- Akhtar, Tooba Nadeem
- Mandy, William
- Skuse, David
- Baker, Kate
- Dewhurst, Eleanor
- Lafont, Amy
- Lucy Raymond, F
- Shirley, Terry
- Tilley, Hayley
- Timur, Husne
- Titterton, Catherine
- Walker, Neil
- Wallwork, Sarah
- Wicks, Francesca
- Ye, Zheng
- Erwood, Marie
- Andrews, Sophie
- Birch, Philippa
- Bowen, Samantha
- Bradley, Karen
- Challenger, Aimee
- Chawner, Samuel
- Cuthbert, Andrew
- Hall, Jeremy
- Holmans, Peter
- Law, Sarah
- Lewis, Nicola
- Morrison, Sinead
- Moss, Hayley
- Owen, Michael
- Ray, Sinead
- Sopp, Matthew
- Tong, Molly
- Bree, Marianne van den
- Coscini, Nadia
- Davies, Sarah
- Denaxas, Spiros
- Denyer, Hayley
- Fatih, Nasrtullah
- Juj, Manoj
- Kerry, Ellie
- Lucock, Anna
- Printzlau, Frida
- Srinivasan, Ramya
- Walker, Susan
- Watkins, Alice
- Searle, Beverly
- Pelling, Anna
- Dean, John
- Robertson, Lisa
- Alan, Denise Williams
- Lucy, Donaldson
- Procter, Annie
- Berg, Jonathan
- Lampe, Anne
- Rankin, Julia
- Joss, Shelagh
- Chitty, Lyn
- Flinter, Frances
- Holder, Muriel
- Kraus, Alison
- Barwell, Julian
- Vasudevan, Pradeep
- Weber, Astrid
- Newman, William
- Splitt, Miranda
- Clowes, Virginia
- Dijk, Fleur van
- Harrison, Rachel
- Kini, Usha
- Quarrell, Oliver
- Baralle, Diana
- Mansour, Sahar
- Crow, Yanick
2021
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British journal of radiology, 2019-09, Vol.92 (1101), p.20190134
2019
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Genetics in medicine, 2021-07, Vol.23 (7), p.1315-1324
- Martin-Almedina, Silvia
- Ogmen, Kazim
- Sackey, Ege
- Grigoriadis, Dionysios
- Karapouliou, Christina
- Nadarajah, Noeline
- Ebbing, Cathrine
- Lord, Jenny
- Mellis, Rhiannon
- Kortuem, Fanny
- Dinulos, Mary Beth
- Polun, Cassandra
- Bale, Sherri
- Atton, Giles
- Robinson, Alexandra
- Reigstad, Hallvard
- Houge, Gunnar
- von der Wense, Axel
- Becker, Wolf-Henning
- Jeffery, Steve
- Mortimer, Peter S.
- Gordon, Kristiana
- Josephs, Katherine S.
- Robart, Sarah
- Kilby, Mark D.
- Vallee, Stephanie
- Gorski, Jerome L.
- Hempel, Maja
- Berland, Siren
- Mansour, Sahar
- Ostergaard, Pia
2021
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International journal of molecular sciences, 2018-08, Vol.19 (8), p.2259
2018
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British journal of radiology, 2017-03, Vol.90 (1071), p.20160717-20160717
2017
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European journal of radiology, 2012-11, Vol.81 (11), p.3234-3244
2012
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European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.525-534
- Holder-Espinasse, Muriel
- Jamsheer, Aleksander
- Escande, Fabienne
- Andrieux, Joris
- Petit, Florence
- Sowinska-Seidler, Anna
- Socha, Magdalena
- Jakubiuk-Tomaszuk, Anna
- Gerard, Marion
- Mathieu-Dramard, Michèle
- Cormier-Daire, Valérie
- Verloes, Alain
- Toutain, Annick
- Plessis, Ghislaine
- Jonveaux, Philippe
- Baumann, Clarisse
- David, Albert
- Farra, Chantal
- Colin, Estelle
- Jacquemont, Sébastien
- Rossi, Annick
- Mansour, Sahar
- Ghali, Neeti
- Moncla, Anne
- Lahiri, Nayana
- Hurst, Jane
- Pollina, Elena
- Patch, Christine
- Ahn, Joo Wook
- Valat, Anne-Sylvie
- Mezel, Aurélie
- Bourgeot, Philippe
- Zhang, David
- Manouvrier-Hanu, Sylvie
2019
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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
- Schepers, Dorien
- Doyle, Alexander J
- Oswald, Gretchen
- Sparks, Elizabeth
- Myers, Loretha
- Willems, Patrick J
- Mansour, Sahar
- Simpson, Michael A
- Frysira, Helena
- Maat-Kievit, Anneke
- Van Minkelen, Rick
- Hoogeboom, Jeanette M
- Mortier, Geert R
- Titheradge, Hannah
- Brueton, Louise
- Starr, Lois
- Stark, Zornitza
- Ockeloen, Charlotte
- Lourenco, Charles Marques
- Blair, Ed
- Hobson, Emma
- Hurst, Jane
- Maystadt, Isabelle
- Destrée, Anne
- Girisha, Katta M
- Miller, Michelle
- Dietz, Harry C
- Loeys, Bart
- Van Laer, Lut
2015
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