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Journal of paediatrics and child health, 2014-03, Vol.50 (3), p.234-238
2014
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BMJ open, 2023-06, Vol.13 (6), p.e072999-e072999
2023
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BMJ open, 2024-04, Vol.14 (4), p.e081426-e081426
- Lunke, Sebastian
- Bouffler, Sophie E
- Downie, Lilian
- Caruana, Jade
- Amor, David J
- Archibald, Alison
- Bombard, Yvonne
- Christodoulou, John
- Clausen, Marc
- De Fazio, Paul
- Greaves, Ronda F
- Hollizeck, Sebastian
- Kanga-Parabia, Anaita
- Lang, Nitzan
- Lynch, Fiona
- Peters, Riccarda
- Sadedin, Simon
- Tutty, Erin
- Eggers, Stefanie
- Lee, Crystle
- Wall, Meaghan
- Yeung, Alison
- Gaff, Clara
- Gyngell, Christopher
- Vears, Danya F
- Best, Stephanie
- Goranitis, Ilias
- Stark, Zornitza
2024
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International journal of neonatal screening, 2024-01, Vol.10 (1), p.6
2024
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The journal of allergy and clinical immunology in practice (Cambridge, MA), 2016-07, Vol.4 (4), p.777-779
2016
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Children (Basel), 2022-07, Vol.9 (7), p.990
2022
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Prenatal diagnosis, 2023-09, Vol.43 (10), p.1310-1319
2023
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American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2856-2859
2023
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American journal of ophthalmology, 2009-09, Vol.148 (3), p.473-473
2009
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The Laryngoscope, 2021-07, Vol.131 (7), p.E2371-E2377
2021
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JAMA pediatrics, 2017-09, Vol.171 (9), p.855
- Tan, Tiong Yang
- Dillon, Oliver James
- Stark, Zornitza
- Schofield, Deborah
- Alam, Khurshid
- Shrestha, Rupendra
- Chong, Belinda
- Phelan, Dean
- Brett, Gemma R
- Creed, Emma
- Jarmolowicz, Anna
- Yap, Patrick
- Walsh, Maie
- Downie, Lilian
- Amor, David J
- Savarirayan, Ravi
- McGillivray, George
- Yeung, Alison
- Peters, Heidi
- Robertson, Susan J
- Robinson, Aaron J
- Macciocca, Ivan
- Sadedin, Simon
- Bell, Katrina
- Oshlack, Alicia
- Georgeson, Peter
- Thorne, Natalie
- Gaff, Clara
- White, Susan M
2017
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Archives of disease in childhood, 2013-02, Vol.98 (2), p.146-154
2013
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Genetics in medicine, 2016-11, Vol.18 (11), p.1090-1096
- Stark, Zornitza
- Tan, Tiong Y.
- Chong, Belinda
- Brett, Gemma R.
- Yap, Patrick
- Walsh, Maie
- Yeung, Alison
- Peters, Heidi
- Mordaunt, Dylan
- Cowie, Shannon
- Amor, David J.
- Savarirayan, Ravi
- McGillivray, George
- Downie, Lilian
- Ekert, Paul G.
- Theda, Christiane
- James, Paul A.
- Yaplito-Lee, Joy
- Ryan, Monique M.
- Leventer, Richard J.
- Creed, Emma
- Macciocca, Ivan
- Bell, Katrina M.
- Oshlack, Alicia
- Sadedin, Simon
- Georgeson, Peter
- Anderson, Charlotte
- Thorne, Natalie
- Gaff, Clara
- White, Susan M.
2016
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3634-3643
2021
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JAMA network open, 2021-07, Vol.4 (7), p.e2114336-e2114336
2021
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Genetics in medicine, 2024-01, p.101077, Article 101077
2024
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Genetics in medicine, 2020-05, Vol.22 (5), p.937-944
2020
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European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.587-596
2020
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Genetics in medicine, 2024-05, Vol.26 (5), p.101077-101077, Article 101077
2024
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Case reports in genetics, 2014-01, Vol.2014, p.965401-6
2014
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Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247
- DiStefano, Marina T
- Hemphill, Sarah E
- Oza, Andrea M
- Siegert, Rebecca K
- Grant, Andrew R
- Hughes, Madeline Y
- Cushman, Brandon J
- Azaiez, Hela
- Booth, Kevin T
- Chapin, Alex
- Duzkale, Hatice
- Matsunaga, Tatsuo
- Shen, Jun
- Zhang, Wenying
- Kenna, Margaret
- Schimmenti, Lisa A
- Tekin, Mustafa
- Rehm, Heidi L
- Tayoun, Ahmad N Abou
- Amr, Sami S
2019
Link zum Volltext
Genetics in medicine, 2021-11, Vol.23 (11), p.2208-2212
- Patel, Mayher J
- DiStefano, Marina T
- Oza, Andrea M
- Hughes, Madeline Y
- Wilcox, Emma H
- Hemphill, Sarah E
- Cushman, Brandon J
- Grant, Andrew R
- Siegert, Rebecca K
- Shen, Jun
- Chapin, Alex
- Boczek, Nicole J
- Schimmenti, Lisa A
- Nara, Kiyomitsu
- Kenna, Margaret
- Azaiez, Hela
- Booth, Kevin T
- Avraham, Karen B
- Kremer, Hannie
- Griffith, Andrew J
- Rehm, Heidi L
- Amr, Sami S
- Tayoun, Ahmad N Abou
2021
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Clinical chemistry (Baltimore, Md.), 2023-08, Vol.69 (8), p.890-900
- Shum, Bennett Oh Vic
- Pretorius, Carel Jacobus
- Sng, Letitia Min Fen
- Henner, Ilya
- Barahona, Paulette
- Basar, Emre
- McGill, Jim
- Wilgen, Urs
- Zournazi, Anna
- Downie, Lilian
- Taylor, Natalie
- Cheney, Liam
- Wu, Sylvania
- Twine, Natalie Angela
- Bauer, Denis Carolin
- Watts, Gerald Francis
- Navilebasappa, Akash
- Kumar, Kishore Rajagopal
- Ungerer, Jacobus Petrus Johannes
- Bennett, Glenn
2023
Link zum Volltext
American journal of human genetics, 2021-09, Vol.108 (9), p.1551-1557
- Stark, Zornitza
- Foulger, Rebecca E.
- Williams, Eleanor
- Thompson, Bryony A.
- Patel, Chirag
- Lunke, Sebastian
- Snow, Catherine
- Leong, Ivone U.S.
- Puzriakova, Arina
- Daugherty, Louise C.
- Leigh, Sarah
- Boustred, Christopher
- Niblock, Olivia
- Rueda-Martin, Antonio
- Gerasimenko, Oleg
- Savage, Kevin
- Bellamy, William
- Lin, Victor San Kho
- Valls, Roman
- Gordon, Lavinia
- Brittain, Helen K.
- Thomas, Ellen R.A.
- Taylor Tavares, Ana Lisa
- McEntagart, Meriel
- White, Susan M.
- Tan, Tiong Y.
- Yeung, Alison
- Downie, Lilian
- Macciocca, Ivan
- Savva, Elena
- Lee, Crystle
- Roesley, Ain
- De Fazio, Paul
- Deller, Jane
- Deans, Zandra C.
- Hill, Sue L.
- Caulfield, Mark J.
- North, Kathryn N.
- Scott, Richard H.
- Rendon, Augusto
- Hofmann, Oliver
- McDonagh, Ellen M.
2021
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Genetics in medicine, 2020-05, Vol.22 (5), p.937-944
2020
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