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Journal of community genetics, 2023-02, Vol.14 (1), p.71-80
2023
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Genetics in Medicine Open, 2024, Vol.2, p.101747, Article 101747
2024
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Genome medicine, 2017-09, Vol.9 (1), p.83-83, Article 83
- Gambin, Tomasz
- Yuan, Bo
- Bi, Weimin
- Liu, Pengfei
- Rosenfeld, Jill A
- Coban-Akdemir, Zeynep
- Pursley, Amber N
- Nagamani, Sandesh C S
- Marom, Ronit
- Golla, Sailaja
- Dengle, Lauren
- Petrie, Heather G
- Matalon, Reuben
- Emrick, Lisa
- Proud, Monica B
- Treadwell-Deering, Diane
- Chao, Hsiao-Tuan
- Koillinen, Hannele
- Brown, Chester
- Urraca, Nora
- Mostafavi, Roya
- Bernes, Saunder
- Roeder, Elizabeth R
- Nugent, Kimberly M
- Bader, Patricia I
- Bellus, Gary
- Cummings, Michael
- Northrup, Hope
- Ashfaq, Myla
- Westman, Rachel
- Wildin, Robert
- Beck, Anita E
- Immken, LaDonna
- Elton, Lindsay
- Varghese, Shaun
- Buchanan, Edward
- Faivre, Laurence
- Lefebvre, Mathilde
- Schaaf, Christian P
- Walkiewicz, Magdalena
- Yang, Yaping
- Kang, Sung-Hae L
- Lalani, Seema R
- Bacino, Carlos A
- Beaudet, Arthur L
- Breman, Amy M
- Smith, Janice L
- Cheung, Sau Wai
- Lupski, James R
- Patel, Ankita
- Shaw, Chad A
- Stankiewicz, Paweł
2017
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JIMD reports, 2023-11, Vol.64 (6), p.434-439
2023
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HGG advances, 2022-01, Vol.3 (1), p.100074, Article 100074
- Zhang, Chaofan
- Jolly, Angad
- Shayota, Brian J.
- Mazzeu, Juliana F.
- Du, Haowei
- Dawood, Moez
- Soper, Patricia Celestino
- Ramalho de Lima, Ariadne
- Ferreira, Bárbara Merfort
- Coban-Akdemir, Zeynep
- White, Janson
- Shears, Deborah
- Thomson, Fraser Robert
- Douglas, Sarah Louise
- Wainwright, Andrew
- Bailey, Kathryn
- Wordsworth, Paul
- Oldridge, Mike
- Lester, Tracy
- Calder, Alistair D.
- Dumic, Katja
- Banka, Siddharth
- Donnai, Dian
- Jhangiani, Shalini N.
- Potocki, Lorraine
- Chung, Wendy K.
- Mora, Sara
- Northrup, Hope
- Ashfaq, Myla
- Rosenfeld, Jill A.
- Mason, Kati
- Pollack, Lynda C.
- McConkie-Rosell, Allyn
- Kelly, Wei
- McDonald, Marie
- Hauser, Natalie S.
- Leahy, Peter
- Powell, Cynthia M.
- Boy, Raquel
- Honjo, Rachel Sayuri
- Kok, Fernando
- Martelli, Lucia R.
- Filho, Vicente Odone
- Genomics England Research Consortium
- Muzny, Donna M.
- Gibbs, Richard A.
- Posey, Jennifer E.
- Liu, Pengfei
- Lupski, James R.
- Sutton, V. Reid
- Carvalho, Claudia M.B.
2022
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Genetics in Medicine Open, 2024-08, p.101883, Article 101883
2024
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Journal of genetic counseling, 2023-12, Vol.32 (6), p.1131-1143
2023
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Journal of genetic counseling, 2023-11
2023
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Genetics in medicine, 2022-03, Vol.24 (3), p.S304-S305
2022
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Journal of genetic counseling, 2017-06, Vol.26 (3), p.620-627
2017
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Mitochondrion, 2021-05, Vol.58, p.179-183
2021
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Prenatal diagnosis, 2021-02, Vol.41 (3), p.354-361
2021
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Journal of genetic counseling, 2018-08, Vol.27 (4), p.761-769
2018
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Genetics in medicine, 2022-10, Vol.24 (10), p.2167-2179
- Massingham, Lauren J.
- Nuñez, Sabrina
- Bernstein, Jonathan A.
- Gardner, David P.
- Parikh, Aditi Shah
- Strovel, Erin T.
- Quintero-Rivera, Fabiola
- Anderson, Hanna
- Ashfaq, Myla
- Bernstein, Jonathan
- Burke, Leah
- Cross, Courtney
- Dhar, Shweta
- Garber, Kathryn
- Gardner, David
- Gold, June-Anne
- Hudder, Alice
- Hyland, Katherine
- Larsen, Niels
- Massingham, Lauren
- Parikh, Aditi
- Penney, Lynette
- Philp, Alisdair (Rod)
- Popejoy, Alice B.
- Sobering, Andrew K.
- Starr, Lois
- Strovel, Erin
- Toriello, Helga V.
- Weiler, Tracey
- Yatsenko, Svetlana
2022
Volltextzugriff (PDF)
Genetics in medicine, 2022-08, Vol.24 (8), p.1753-1760
- van der Sluijs, Pleuntje J.
- Joosten, Marieke
- Alby, Caroline
- Attié-Bitach, Tania
- Gilmore, Kelly
- Dubourg, Christele
- Fradin, Mélanie
- Wang, Tianyun
- Kurtz-Nelson, Evangeline C.
- Ahlers, Kaitlyn P.
- Arts, Peer
- Barnett, Christopher P.
- Ashfaq, Myla
- Baban, Anwar
- van den Born, Myrthe
- Borrie, Sarah
- Busa, Tiffany
- Byrne, Alicia
- Carriero, Miriam
- Cesario, Claudia
- Chong, Karen
- Cueto-González, Anna Maria
- Dempsey, Jennifer C.
- Diderich, Karin E.M.
- Doherty, Dan
- Farholt, Stense
- Gerkes, Erica H.
- Gorokhova, Svetlana
- Govaerts, Lutgarde C.P.
- Gregersen, Pernille A.
- Hickey, Scott E.
- Lefebvre, Mathilde
- Mari, Francesca
- Martinovic, Jelena
- Northrup, Hope
- O’Leary, Melanie
- Parbhoo, Kareesma
- Patrier, Sophie
- Popp, Bernt
- Santos-Simarro, Fernando
- Stoltenburg, Corinna
- Thauvin-Robinet, Christel
- Thompson, Elisabeth
- Vulto-van Silfhout, Anneke T.
- Zahir, Farah R.
- Scott, Hamish S.
- Earl, Rachel K.
- Eichler, Evan E.
- Vora, Neeta L.
- Wilnai, Yael
- Giordano, Jessica L.
- Wapner, Ronald J.
- Rosenfeld, Jill A.
- Haak, Monique C.
- Santen, Gijs W.E.
2022
Volltextzugriff (PDF)
Pediatric neurology, 2019-02, Vol.91, p.41-49
2019
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Genetics in medicine, 2023-02, Vol.25 (2), p.100004-100004, Article 100004
- van der Sluijs, Pleuntje J.
- Joosten, Marieke
- Alby, Caroline
- Attié-Bitach, Tania
- Gilmore, Kelly
- Dubourg, Christele
- Fradin, Mélanie
- Wang, Tianyun
- Kurtz-Nelson, Evangeline C.
- Ahlers, Kaitlyn P.
- Arts, Peer
- Barnett, Christopher P.
- Ashfaq, Myla
- Baban, Anwar
- van den Born, Myrthe
- Borrie, Sarah
- Busa, Tiffany
- Byrne, Alicia
- Carriero, Miriam
- Cesario, Claudia
- Chong, Karen
- Cueto-González, Anna Maria
- Dempsey, Jennifer C.
- Diderich, Karin E.M.
- Doherty, Dan
- Farholt, Stense
- Gerkes, Erica H.
- Gorokhova, Svetlana
- Govaerts, Lutgarde C.P.
- Gregersen, Pernille A.
- Hickey, Scott E.
- Lefebvre, Mathilde
- Mari, Francesca
- Martinovic, Jelena
- Northrup, Hope
- O’Leary, Melanie
- Parbhoo, Kareesma
- Patrier, Sophie
- Popp, Bernt
- Santos-Simarro, Fernando
- Stoltenburg, Corinna
- Thauvin-Robinet, Christel
- Thompson, Elisabeth
- Vulto-van Silfhout, Anneke T.
- Zahir, Farah R.
- Scott, Hamish S.
- Earl, Rachel K.
- Eichler, Evan E.
- Vora, Neeta L.
- Wilnai, Yael
- Giordano, Jessica L.
- Wapner, Ronald J.
- Rosenfeld, Jill A.
- Haak, Monique C.
- Santen, Gijs W.E.
2023
Volltextzugriff (PDF)
Journal of genetic counseling, 2013-12, Vol.22 (6), p.721-732
2013
Volltextzugriff (PDF)
JIMD reports, 2023, Vol.64 (6), p.434-439
2023
Volltextzugriff (PDF)
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