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Clinical genetics, 2023-11, Vol.104 (5), p.607-609
2023
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.20-24
2020
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Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2325-n/a
2024
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Molecular genetics & genomic medicine, 2024-03, Vol.12 (3), p.e2398-n/a
2024
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Frontiers in molecular biosciences, 2022-10, Vol.9
2022
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat‐Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Palomares Bralo, María
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos‐Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- John, Miya St
- Thauvin‐Robinet, Christel
- Traficante, Giovanna
- Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti‐Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman‐Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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American journal of human genetics, 2024-05
- Karayol, Remzi
- Borroto, Maria Carla
- Haghshenas, Sadegheh
- Namasivayam, Anoja
- Reilly, Jack
- Levy, Michael A.
- Relator, Raissa
- Kerkhof, Jennifer
- McConkey, Haley
- Shvedunova, Maria
- Petersen, Andrea K.
- Magnussen, Kari
- Zweier, Christiane
- Vasileiou, Georgia
- Reis, André
- Savatt, Juliann M.
- Mulligan, Meghan R.
- Bicknell, Louise S.
- Poke, Gemma
- Abu-El-Haija, Aya
- Duis, Jessica
- Hannig, Vickie
- Srivastava, Siddharth
- Barkoudah, Elizabeth
- Hauser, Natalie S.
- van den Born, Myrthe
- Hamiel, Uri
- Henig, Noa
- Baris Feldman, Hagit
- McKee, Shane
- Krapels, Ingrid P.C.
- Lei, Yunping
- Todorova, Albena
- Yordanova, Ralitsa
- Atemin, Slavena
- Rogac, Mihael
- McConnell, Vivienne
- Chassevent, Anna
- Barañano, Kristin W.
- Shashi, Vandana
- Sullivan, Jennifer A.
- Peron, Angela
- Iascone, Maria
- Canevini, Maria P.
- Friedman, Jennifer
- Reyes, Iris A.
- Kierstein, Janell
- Shen, Joseph J.
- Ahmed, Faria N.
- Mao, Xiao
- Almoguera, Berta
- Blanco-Kelly, Fiona
- Platzer, Konrad
- Treu, Ariana-Berenike
- Quilichini, Juliette
- Bourgois, Alexia
- Chatron, Nicolas
- Januel, Louis
- Rougeot, Christelle
- Carere, Deanna Alexis
- Monaghan, Kristin G.
- Rousseau, Justine
- Myers, Kenneth A.
- Sadikovic, Bekim
- Akhtar, Asifa
- Campeau, Philippe M.
2024
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Drug resistance updates, 2020-12, Vol.53, p.100729, Article 100729
2020
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1911-1916
- Bivona, Stephanie
- Peart, LéShon
- Guo, Shengru
- Adam, Margaret
- Agrawal, Pankaj B.
- Alvey, Justin
- Balasubramanyam, Ashok
- Bayrak‐Toydemir, Pinar
- Beck, Anita
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Chanprasert, Sirisak
- Clark, Gary D.
- Coggins, Matthew
- Cope, Heidi
- Craigen, William J.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Eckstein, David J.
- Emrick, Lisa T.
- Ferreira, Carlos
- Fisher, Paul G.
- Gahl, William A.
- Goldman, Alica M.
- Goldstein, David B.
- Grajewski, Alana
- Groden, Catherine A.
- Hamid, Rizwan
- Hanchard, Neil A.
- Hassey, Kelly
- Hayes, Nichole
- Horike‐Pyne, Martha
- Huang, Alden
- Huang, Yong
- Huryn, Laryssa
- Isasi, Rosario
- Jarvik, Gail P.
- Kennedy, Jennifer
- Kiley, Dana
- Kohane, Isaac S.
- Krakow, Deborah
- Krasnewich, Donna M.
- Kravets, Elijah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lalani, Seema R.
- Lam, Christina
- LaMoure, Grace L.
- Lee, Brendan H.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Beth A.
- Marwaha, Shruti
- Mefford, Heather
- Morava, Eva
- Mulvihill, John J.
- Nakano‐Okuno, Mariko
- Nath, Avi
- Nickerson, Deborah
- Nieves‐Rodriguez, Shirley
- Pallais, J. Carl
- Raskind, Wendy
- Renteria, Genecee
- Ruzhnikov, Maura
- Samson, Susan L.
- Shashi, Vandana
- Silverman, Edwin K.
- Sisco, Kathy
- Solnica‐Krezel, Lilianna
- Solomon, Ben
- Sun, Angela
- Sweetser, David A.
- Tan, Queenie K.‐G.
- Thorson, Willa
- Thurm, Audrey
- Tran, Alyssa A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walsh, Chris A.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Wener, Mark
- Wenger, Tara
- Yang, John
- Yousef, Muhammad
2023
Link zum Volltext
American journal of human genetics, 2019-04, Vol.104 (4), p.685-700
- Aref-Eshghi, Erfan
- Bend, Eric G.
- Colaiacovo, Samantha
- Caudle, Michelle
- Chakrabarti, Rana
- Napier, Melanie
- Brick, Lauren
- Brady, Lauren
- Carere, Deanna Alexis
- Levy, Michael A.
- Kerkhof, Jennifer
- Stuart, Alan
- Saleh, Maha
- Beaudet, Arthur L.
- Li, Chumei
- Kozenko, Maryia
- Karp, Natalya
- Prasad, Chitra
- Siu, Victoria Mok
- Tarnopolsky, Mark A.
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Krantz, Ian D.
- Deardorff, Matthew A.
- Schwartz, Charles E.
- Sadikovic, Bekim
2019
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American journal of medical genetics. Part A, 2024-05, p.e63651-e63651
2024
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American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63528-n/a
2024
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Mitochondrion, 2019-05, Vol.46, p.345-360
2019
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Genetics in medicine, 2022-11, Vol.24 (11), p.2399-2407
- Oh, Rachel Youjin
- Deshwar, Ashish R.
- Marwaha, Ashish
- Sabha, Nesrin
- Tropak, Michael
- Hou, Huayun
- Yuki, Kyoko E.
- Wilson, Michael D.
- Rump, Patrick
- Lunsing, Roelineke
- Elserafy, Noha
- Chung, Clara W.T.
- Hewson, Stacy
- Klein-Rodewald, Tanja
- Calzada-Wack, Julia
- Sanz-Moreno, Adrián
- Kraiger, Markus
- Marschall, Susan
- Fuchs, Helmut
- Gailus-Durner, Valerie
- Hrabe de Angelis, Martin
- Dowling, James
- Schulze, Andreas
2022
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American journal of medical genetics. Part A, 2024-05, p.e63642
2024
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Human mutation, 2019-03, Vol.40 (3), p.267-280, Article humu.23694
- Rehman, Atteeq U.
- Najafi, Maryam
- Kambouris, Marios
- Al‐Gazali, Lihadh
- Makrythanasis, Periklis
- Rad, Abolfazl
- Maroofian, Reza
- Rajab, Anna
- Stark, Zornitza
- Hunter, Jill V.
- Bakey, Zeineb
- Tokita, Mari J.
- He, Weimin
- Vetrini, Francesco
- Petersen, Andrea
- Santoni, Federico A.
- Hamamy, Hanan
- Wu, Kaman
- Al‐Jasmi, Fatma
- Helmstädter, Martin
- Arnold, Sebastian J.
- Xia, Fan
- Richmond, Christopher
- Liu, Pengfei
- Karimiani, Ehsan Ghayoor
- Karami Madani, GholamReza
- Lunke, Sebastian
- El‐Shanti, Hatem
- Eng, Christine M.
- Antonarakis, Stylianos E.
- Hertecant, Jozef
- Walkiewicz, Magdalena
- Yang, Yaping
- Schmidts, Miriam
2019
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2627-2629
2021
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American journal of medical genetics. Part A, 2023-11, Vol.191 (11), p.2757-2767
2023
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Genesis (New York, N.Y. : 2000), 2019-01, Vol.57 (1), p.e23278-n/a
2019
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Pediatric neurology, 2023-01, Vol.138, p.25-26
2023
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Birth defects research, 2022-08, Vol.114 (13), p.759-767
- Romano, Ferruccio
- Falco, Mariateresa
- Cappuccio, Gerarda
- Brunetti‐Pierri, Nicola
- Lonardo, Fortunato
- Torella, Annalaura
- Digilio, Maria Cristina
- Dentici, Maria Lisa
- Alfieri, Paolo
- Agolini, Emanuele
- Novelli, Antonio
- Garavelli, Livia
- Accogli, Andrea
- Striano, Pasquale
- Scarano, Gioacchino
- Nigro, Vincenzo
- Scala, Marcello
- Capra, Valeria
2022
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BMC medical genetics, 2020-08, Vol.21 (1), p.1-158, Article 158
2020
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American journal of human genetics, 2021-06, Vol.108 (6), p.1138-1150
- Chopra, Maya
- McEntagart, Meriel
- Clayton-Smith, Jill
- Platzer, Konrad
- Shukla, Anju
- Girisha, Katta M.
- Kaur, Anupriya
- Kaur, Parneet
- Pfundt, Rolph
- Veenstra-Knol, Hermine
- Mancini, Grazia M.S.
- Cappuccio, Gerarda
- Brunetti-Pierri, Nicola
- Kortüm, Fanny
- Hempel, Maja
- Denecke, Jonas
- Lehman, Anna
- Kleefstra, Tjitske
- Stuurman, Kyra E.
- Wilke, Martina
- Thompson, Michelle L.
- Bebin, E. Martina
- Bijlsma, Emilia K.
- Hoffer, Mariette J.V.
- Peeters-Scholte, Cacha
- Slavotinek, Anne
- Weiss, William A.
- Yip, Tiffany
- Hodoglugil, Ugur
- Whittle, Amy
- diMonda, Janette
- Neira, Juanita
- Yang, Sandra
- Kirby, Amelia
- Pinz, Hailey
- Lechner, Rosan
- Sleutels, Frank
- Helbig, Ingo
- McKeown, Sarah
- Helbig, Katherine
- Willaert, Rebecca
- Juusola, Jane
- Semotok, Jennifer
- Hadonou, Medard
- Short, John
- Yachelevich, Naomi
- Lala, Sajel
- Fernández-Jaen, Alberto
- Pelayo, Janvier Porta
- Klöckner, Chiara
- Kamphausen, Susanne B.
- Abou Jamra, Rami
- Arelin, Maria
- Innes, A. Micheil
- Niskakoski, Anni
- Amin, Sam
- Williams, Maggie
- Evans, Julie
- Smithson, Sarah
- Smedley, Damian
- de Burca, Anna
- Kini, Usha
- Delatycki, Martin B.
- Gallacher, Lyndon
- Yeung, Alison
- Pais, Lynn
- Field, Michael
- Martin, Ellenore
- Charles, Perrine
- Courtin, Thomas
- Keren, Boris
- Iascone, Maria
- Cereda, Anna
- Poke, Gemma
- Abadie, Véronique
- Chalouhi, Christel
- Parthasarathy, Padmini
- Halliday, Benjamin J.
- Robertson, Stephen P.
- Lyonnet, Stanislas
- Amiel, Jeanne
- Gordon, Christopher T.
2021
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American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2796-2802
2022
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American journal of human genetics, 2017-04, Vol.100 (4), p.666-675
2017
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