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Genetics in medicine, 2018-12, Vol.20 (12), p.1564-1574
- Ewans, Lisa J.
- Schofield, Deborah
- Shrestha, Rupendra
- Zhu, Ying
- Gayevskiy, Velimir
- Ying, Kevin
- Walsh, Corrina
- Lee, Eric
- Kirk, Edwin P
- Colley, Alison
- Ellaway, Carolyn
- Turner, Anne
- Mowat, David
- Worgan, Lisa
- Freckmann, Mary-Louise
- Lipke, Michelle
- Sachdev, Rani
- Miller, David
- Field, Michael
- Dinger, Marcel E.
- Buckley, Michael F.
- Cowley, Mark J
- Roscioli, Tony
2018
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Journal of paediatrics and child health, 2022-01, Vol.58 (1), p.8-15
2022
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Journal of paediatrics and child health, 2021-04, Vol.57 (4), p.477-483
- Sachdev, Rani
- Field, Mike
- Baynam, Gareth S
- Beilby, John
- Berarducci, Maria
- Berman, Yemima
- Boughtwood, Tiffany
- Cusack, Marie B
- Fitzgerald, Vanessa
- Fletcher, Jeffery
- Freckmann, Mary‐Louise
- Grainger, Natalie
- Kirk, Edwin
- Lundie, Ben
- Lunke, Sebastian
- McGregor, Lesley
- Mowat, David
- Parasivam, Gayathri
- Tyrell, Vanessa
- Wallis, Mathew
- White, Susan M
- Ma, Alan
2021
Link zum Volltext
Orphanet journal of rare diseases, 2015-11, Vol.10 (148), p.148-148, Article 148
- Todd, Emily J
- Yau, Kyle S
- Ong, Royston
- Slee, Jennie
- McGillivray, George
- Barnett, Christopher P
- Haliloglu, Goknur
- Talim, Beril
- Akcoren, Zuhal
- Kariminejad, Ariana
- Cairns, Anita
- Clarke, Nigel F
- Freckmann, Mary-Louise
- Romero, Norma B
- Williams, Denise
- Sewry, Caroline A
- Colley, Alison
- Ryan, Monique M
- Kiraly-Borri, Cathy
- Sivadorai, Padma
- Allcock, Richard J N
- Beeson, David
- Maxwell, Susan
- Davis, Mark R
- Laing, Nigel G
- Ravenscroft, Gianina
2015
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PLoS genetics, 2013-08, Vol.9 (8), p.e1003746-e1003746
2013
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Genetics in medicine, 2018-09, Vol.20 (9), p.1061-1068
- Lee, Eric
- Le, Trang
- Zhu, Ying
- Elakis, George
- Turner, Anne
- Lo, William
- Venselaar, Hanka
- Verrenkamp, Carol-Ann
- Snow, Nicole
- Mowat, David
- Kirk, Edwin Philip
- Sachdev, Rani
- Smith, Janine
- Brown, Natasha Jane
- Wallis, Mathew
- Barnett, Chris
- McKenzie, Fiona
- Freckmann, Mary-Louise
- Collins, Felicity
- Chopra, Maya
- Gregersen, Nerine
- Hayes, Ian
- Rajagopalan, Sulekha
- Tan, Tiong Yang
- Stark, Zornitza
- Savarirayan, Ravi
- Yeung, Alison
- Adès, Lesley
- Gattas, Michael
- Gibson, Kate
- Gabbett, Michael
- Amor, David John
- Lattanzi, Wanda
- Boyd, Simeon
- Haan, Eric
- Gianoutsos, Mark
- Cox, Timothy Chilton
- Buckley, Michael Francis
- Roscioli, Tony
2018
Link zum Volltext
Reproductive biomedicine online, 2011-10, Vol.23 (4), p.466-470
2011
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Human mutation, 2020-01, Vol.41 (1), p.299-315
- Koczkowska, Magdalena
- Callens, Tom
- Chen, Yunjia
- Gomes, Alicia
- Hicks, Alesha D.
- Sharp, Angela
- Johns, Eric
- Uhas, Kim Armfield
- Armstrong, Linlea
- Bosanko, Katherine Armstrong
- Babovic‐Vuksanovic, Dusica
- Baker, Laura
- Basel, Donald G.
- Bennett, James T.
- Chambers, Chelsea
- Clarkson, Lola K.
- Clementi, Maurizio
- Cortés, Fanny M.
- Cunningham, Mitch
- D'Agostino, M. Daniela
- Delatycki, Martin B.
- Digilio, Maria C.
- Dosa, Laura
- Esposito, Silvia
- Fox, Stephanie
- Freckmann, Mary‐Louise
- Fauth, Christine
- Giugliano, Teresa
- Giustini, Sandra
- Goetsch, Allison
- Greenwood, Robert S.
- Griffis, Cristin
- Gripp, Karen W.
- Gupta, Punita
- Haan, Eric
- Hachen, Rachel K.
- Haygarth, Tamara L.
- Hernández‐Chico, Concepción
- Hodge, Katelyn
- Hopkin, Robert J.
- Hudgins, Louanne
- Janssens, Sandra
- Keller, Kory
- Kelly‐Mancuso, Geraldine
- Kochhar, Aaina
- Korf, Bruce R.
- Lewis, Andrea M.
- Liebelt, Jan
- Lichty, Angie
- Listernick, Robert H.
- Lyons, Michael J.
- Maystadt, Isabelle
- Martinez Ojeda, Mayra
- McDougall, Carey
- McGregor, Lesley K.
- Melis, Daniela
- Mendelsohn, Nancy
- Nowaczyk, Malgorzata J.M.
- Ortenberg, June
- Panzer, Karin
- Pierpont, Mary Ella
- Piluso, Giulio
- Pinna, Valentina
- Pivnick, Eniko K.
- Pond, Dinel A.
- Powell, Cynthia M.
- Rogers, Caleb
- Ruhrman Shahar, Noa
- Rutledge, S. Lane
- Saletti, Veronica
- Sandaradura, Sarah A.
- Schatz, Ulrich A.
- Scott, Daryl A.
- Sellars, Elizabeth A.
- Sheffer, Ruth
- Siqveland, Elizabeth
- Slopis, John M.
- Smith, Rosemarie
- Spalice, Alberto
- Stockton, David W.
- Streff, Haley
- Theos, Amy
- Tomlinson, Gail E.
- Tran, Grace
- Trapane, Pamela L.
- Trevisson, Eva
- Ullrich, Nicole J.
- Van den Ende, Jenneke
- Schrier Vergano, Samantha A.
- Wallace, Stephanie E.
- Wangler, Michael F.
- Yohay, Kaleb H.
- Zackai, Elaine
- Zonana, Jonathan
- Claes, Kathleen B. M.
- Eoli, Marica
- Wimmer, Katharina
- De Luca, Alessandro
- Legius, Eric
- Messiaen, Ludwine M.
2020
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Clinical epigenetics, 2018-08, Vol.10 (1), p.114-114, Article 114
- Dagar, Vinod
- Hutchison, Wendy
- Muscat, Andrea
- Krishnan, Anita
- Hoke, David
- Buckle, Ashley
- Siswara, Priscillia
- Amor, David J
- Mann, Jeffrey
- Pinner, Jason
- Colley, Alison
- Wilson, Meredith
- Sachdev, Rani
- McGillivray, George
- Edwards, Matthew
- Kirk, Edwin
- Collins, Felicity
- Jones, Kristi
- Taylor, Juliet
- Hayes, Ian
- Thompson, Elizabeth
- Barnett, Christopher
- Haan, Eric
- Freckmann, Mary-Louise
- Turner, Anne
- White, Susan
- Kamien, Ben
- Ma, Alan
- Mackenzie, Fiona
- Baynam, Gareth
- Kiraly-Borri, Cathy
- Field, Michael
- Dudding-Byth, Tracey
- Algar, Elizabeth M
2018
Link zum Volltext
European journal of human genetics : EJHG, 2022-10, Vol.30 (10), p.1121-1131
- Ewans, Lisa J
- Minoche, Andre E
- Schofield, Deborah
- Shrestha, Rupendra
- Puttick, Clare
- Zhu, Ying
- Drew, Alexander
- Gayevskiy, Velimir
- Elakis, George
- Walsh, Corrina
- Adès, Lesley C
- Colley, Alison
- Ellaway, Carolyn
- Evans, Carey-Anne
- Freckmann, Mary-Louise
- Goodwin, Linda
- Hackett, Anna
- Kamien, Benjamin
- Kirk, Edwin P
- Lipke, Michelle
- Mowat, David
- Palmer, Elizabeth
- Rajagopalan, Sulekha
- Ronan, Anne
- Sachdev, Rani
- Stevenson, William
- Turner, Anne
- Wilson, Meredith
- Worgan, Lisa
- Morel-Kopp, Marie-Christine
- Field, Michael
- Buckley, Michael F
- Cowley, Mark J
- Dinger, Marcel E
- Roscioli, Tony
2022
Link zum Volltext
Nature medicine, 2023-07, Vol.29 (7), p.1681-1691
- Lunke, Sebastian
- Bouffler, Sophie E
- Patel, Chirag V
- Sandaradura, Sarah A
- Wilson, Meredith
- Pinner, Jason
- Hunter, Matthew F
- Barnett, Christopher P
- Wallis, Mathew
- Kamien, Benjamin
- Tan, Tiong Y
- Freckmann, Mary-Louise
- Chong, Belinda
- Phelan, Dean
- Francis, David
- Kassahn, Karin S
- Ha, Thuong
- Gao, Song
- Arts, Peer
- Jackson, Matilda R
- Scott, Hamish S
- Eggers, Stefanie
- Rowley, Simone
- Boggs, Kirsten
- Rakonjac, Ana
- Brett, Gemma R
- de Silva, Michelle G
- Springer, Amanda
- Ward, Michelle
- Stallard, Kirsty
- Simons, Cas
- Conway, Thomas
- Halman, Andreas
- Van Bergen, Nicole J
- Sikora, Tim
- Semcesen, Liana N
- Stroud, David A
- Compton, Alison G
- Thorburn, David R
- Bell, Katrina M
- Sadedin, Simon
- North, Kathryn N
- Christodoulou, John
- Stark, Zornitza
2023
Link zum Volltext
Genetics in medicine, 2018-09, Vol.20 (9), p.1061-1068
- Lee, Eric
- Le, Trang
- Zhu, Ying
- Elakis, George
- Turner, Anne
- Lo, William
- Venselaar, Hanka
- Verrenkamp, Carol-Ann
- Snow, Nicole
- Mowat, David
- Kirk, Edwin Philip
- Sachdev, Rani
- Smith, Janine
- Brown, Natasha Jane
- Wallis, Mathew
- Barnett, Chris
- McKenzie, Fiona
- Freckmann, Mary-Louise
- Collins, Felicity
- Chopra, Maya
- Gregersen, Nerine
- Hayes, Ian
- Rajagopalan, Sulekha
- Tan, Tiong Yang
- Stark, Zornitza
- Savarirayan, Ravi
- Yeung, Alison
- Adès, Lesley
- Gattas, Michael
- Gibson, Kate
- Gabbett, Michael
- Amor, David John
- Lattanzi, Wanda
- Boyd, Simeon
- Haan, Eric
- Gianoutsos, Mark
- Cox, Timothy Chilton
- Buckley, Michael Francis
- Roscioli, Tony
2018
Link zum Volltext
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
- 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, Jr, John M
- Kini, Usha
- Mackay, Joel P
- Pierson, Tyler Mark
2020
Link zum Volltext
Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.1030-1038
- VAN SCHERPENZEEL, Monique
- TIMAL, Sharita
- GRØNBORG, Sabine
- RUIJTER, George
- KATTENTIDT-MOURAVIEVA, Anna
- MORITZ BRUM, Jaime
- FRECKMANN, Mary-Louise
- TOMKINS, Susan
- JALAN, Anil
- PROCHAZKOVA, Dagmar
- ONDRUSKOVA, Nina
- HANSIKOVA, Hana
- RYMEN, Daisy
- WILLEMSEN, Michel A
- HENSBERGEN, Paul J
- MATTHIJS, Gert
- WEVERS, Ron A
- VELTMAN, Joris A
- MORAVA, Eva
- LEFEBER, Dirk J
- HOISCHEN, Alexander
- WUHRER, Manfred
- HIPGRAVE-EDERVEEN, Agnes
- GRUNEWALD, Stephanie
- PEANNE, Romain
- SAADA, Ann
- EDVARDSON, Shimon
2014
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Journal of paediatrics and child health, 2011-01, Vol.47 (1‐2), p.64-65
2011
Link zum Volltext
American journal of human genetics, 2008-07, Vol.83 (1), p.106-111
- Marshall, Christian R.
- Young, Edwin J.
- Pani, Ariel M.
- Freckmann, Mary-Louise
- Lacassie, Yves
- Howald, Cédric
- Fitzgerald, Kristi K.
- Peippo, Maarit
- Morris, Colleen A.
- Shane, Kate
- Priolo, Manuela
- Morimoto, Masafumi
- Kondo, Ikuko
- Manguoglu, Esra
- Berker-Karauzum, Sibel
- Edery, Patrick
- Hobart, Holly H.
- Mervis, Carolyn B.
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- Reymond, Alexandre
- Kaplan, Paige
- Tassabehji, May
- Gregg, Ronald G.
- Scherer, Stephen W.
- Osborne, Lucy R.
2008
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Journal of medical case reports, 2010-11, Vol.4 (1), p.361-361, Article 361
2010
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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
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- Davis-Keppen, Laura
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- Dowling, James J
- Finkel, Richard
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- Marsh, Eric D
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- Kini Usha
- Mackay, Joel P
- Pierson, Tyler Mark
2020
Link zum Volltext
Cell reports. Medicine, 2022-02, Vol.3 (2), p.100501-100501, Article 100501
- Teekakirikul, Polakit
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- Young, Cullen B.
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- Wang, Chengdong
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2022
Link zum Volltext
Genetics in medicine, 2022-01, Vol.24 (1), p.130-145
- Bommireddipalli, Shobhana
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2022
Link zum Volltext
Annals of neurology, 2000-07, Vol.48 (1), p.102-104
2000
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Human mutation, 2020-01, Vol.41 (1), p.299-315
- Koczkowska, Magdalena
- Callens, Tom
- Chen, Yunjia
- Gomes, Alicia
- Hicks, Alesha D.
- Sharp, Angela
- Armstrong, Linlea
- Bosanko, Katherine Armstrong
- Babovic‐Vuksanovic, Dusica
- Baker, Laura
- Basel, Donald G.
- Bengala, Mario
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- D'Agostino, M. Daniela
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- Fox, Stephanie
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- Griffis, Cristin
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- Gupta, Punita
- Haan, Eric
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- Korf, Bruce R.
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- Liebelt, Jan
- Lichty, Angie
- Listernick, Robert H.
- Lyons, Michael J.
- Maystadt, Isabelle
- Martinez Ojeda, Mayra
- McDougall, Carey
- McGregor, Lesley K.
- Melis, Daniela
- Mendelsohn, Nancy
- Nowaczyk, Malgorzata J.M.
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- Pappas, John G.
- Pierpont, Mary Ella
- Piluso, Giulio
- Pinna, Valentina
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- Pond, Dinel A.
- Rogers, Caleb
- Ruhrman Shahar, Noa
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- Schreiber, Allison
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- Sheffer, Ruth
- Siqveland, Elizabeth
- Slopis, John M.
- Smith, Rosemarie
- Spalice, Alberto
- Streff, Haley
- Theos, Amy
- Tomlinson, Gail E.
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- Trevisson, Eva
- Ullrich, Nicole J.
- Van den Ende, Jenneke
- Schrier Vergano, Samantha A.
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- Wangler, Michael F.
- Weaver, David D.
- Yohay, Kaleb H.
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2020
Link zum Volltext
Med (New York, N.Y. : Online), 2021-01, Vol.2 (1), p.49-73.e10
- Frazier, Ann E.
- Compton, Alison G.
- Kishita, Yoshihito
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- Sadedin, Simon
- Cowley, Mark J.
- Minoche, André E.
- Calvo, Sarah E.
- Mootha, Vamsi K.
- Ryan, Michael T.
- Okazaki, Yasushi
- Stroud, David A.
- Simons, Cas
- Christodoulou, John
- Thorburn, David R.
2021
Link zum Volltext
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
Link zum Volltext
PLoS genetics, 2013-08, Vol.9 (8)
2013
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