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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...Cold Spring Harbor molecular case studies, 2020-08, Vol.6 (4), p.a005256
2020
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American journal of human genetics, 2020-01, Vol.106 (1), p.129-136
2020
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American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1649-1665
- Sheppard, Sarah E.
- Campbell, Ian M.
- Harr, Margaret H.
- Gold, Nina
- Li, Dong
- Bjornsson, Hans T.
- Cohen, Julie S.
- Fahrner, Jill A.
- Fatemi, Ali
- Harris, Jacqueline R.
- Nowak, Catherine
- Stevens, Cathy A.
- Grand, Katheryn
- Au, Margaret
- Graham, John M.
- Sanchez‐Lara, Pedro A.
- Campo, Miguel Del
- Jones, Marilyn C.
- Abdul‐Rahman, Omar
- Bassetti, Jennifer A.
- Bergstrom, Katherine
- Bhoj, Elizabeth
- Dugan, Sarah
- Kaplan, Julie D.
- Derar, Nada
- Gripp, Karen W.
- Hauser, Natalie
- Innes, A. Micheil
- Keena, Beth
- Kodra, Neslida
- Miller, Rebecca
- Nelson, Beverly
- Nowaczyk, Malgorzata J.
- Rahbeeni, Zuhair
- Ben‐Shachar, Shay
- Shieh, Joseph T.
- Slavotinek, Anne
- Sobering, Andrew K.
- Abbott, Mary‐Alice
- Allain, Dawn C.
- Amlie‐Wolf, Louise
- Au, Ping Yee Billie
- Bedoukian, Emma
- Beek, Geoffrey
- Barry, James
- Berg, Janet
- Bernstein, Jonathan A.
- Cytrynbaum, Cheryl
- Chung, Brian Hon‐Yin
- Donoghue, Sarah
- Dorrani, Naghmeh
- Eaton, Alison
- Flores‐Daboub, Josue A.
- Dubbs, Holly
- Felix, Carolyn A.
- Fong, Chin‐To
- Fung, Jasmine Lee Fong
- Gangaram, Balram
- Goldstein, Amy
- Greenberg, Rotem
- Ha, Thoa K.
- Hersh, Joseph
- Izumi, Kosuke
- Kravets, Elijah
- Kwok, Pui‐Yan
- Jobling, Rebekah K.
- Knight Johnson, Amy E.
- Kushner, Jessica
- Lee, Bo Hoon
- Levin, Brooke
- Lindstrom, Kristin
- Manickam, Kandamurugu
- Mardach, Rebecca
- McCormick, Elizabeth
- McLeod, D. Ross
- Mentch, Frank D.
- Minks, Kelly
- Muraresku, Colleen
- Nelson, Stanley F.
- Porazzi, Patrizia
- Pichurin, Pavel N.
- Powell‐Hamilton, Nina N.
- Powis, Zoe
- Ritter, Alyssa
- Rogers, Caleb
- Rohena, Luis
- Ronspies, Carey
- Schroeder, Audrey
- Stark, Zornitza
- Starr, Lois
- Stoler, Joan
- Suwannarat, Pim
- Velinov, Milen
- Weksberg, Rosanna
- Wilnai, Yael
- Zadeh, Neda
- Falk, Marni J.
- Hakonarson, Hakon
- Zackai, Elaine H.
- Quintero‐Rivera, Fabiola
2021
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HGG advances, 2024-07, Vol.5 (3), p.100287, Article 100287
- Haghshenas, Sadegheh
- Bout, Hidde J.
- Schijns, Josephine M.
- Kerkhof, Jennifer
- Bhai, Pratibha
- McConkey, Haley
- Williams, Ella M.
- Halliday, Benjamin J.
- Huisman, Sylvia A.
- Lauffer, Peter
- de Waard, Vivian
- Witteveen, Laura
- Hurst, Anna C.E.
- Kaiser, Frank J.
- Martinez-Monseny, Antonio F.
- Fergelot, Patricia
- Monteiro, Fabíola P.
- Parenti, Ilaria
- Persani, Luca
- Simpson, Brittany N.
- Angius, Andrea
- Bedoukian, Emma
- Bhambhani, Vikas
- Bodamer, Olaf
- O’Brien, Alan
- Crisponi, Laura
- Cueto González, Anna María
- the DDD study
- Devriendt, Koenraad
- van Eerde, Albertien
- van den Elzen, Annette P.M.
- Faivre, Laurence
- Fisher, Laura
- Flores-Daboub, Josue A.
- Foster, Alison
- Friedman, Jennifer
- Gabau, Elisabeth
- Galazzi, Elena
- García-Miñaúr, Sixto
- Garavelli, Livia
- Gardeitchik, Thatjana
- Gerkes, Erica H.
- van Gils, Julien
- Garcia, Aixa Gonzalez
- Heimdal, Ketil Riddervold
- Houge, Gunnar
- Hufnagel, Sophia B.
- Ilencikova, Denisa
- Julia, Sophie
- Kant, Sarina G.
- Klee, Eric W.
- Kovačević, Maja
- Lachmeijer, A.M.A. (Guus)
- Lanpher, Brendan
- Lebrun, Marine
- Leon, Eyby
- Lichty, Angie Ward
- Lin, Ruth
- Llano-Rivas, Isabel
- Lynch, Sally Ann
- Maas, Saskia M.
- Maitz, Silvia B.
- McKee, Shane
- Melis, Daniela
- Merati, Elisabetta
- Merla, Giuseppe
- Newbury-Ecob, Ruth
- Park, Soo-Mi
- Patterson, Jennifer
- Peeters, Hilde
- Persico, Ivana
- Pes, Valentina
- Pollazzon, Marzia
- Potjer, Thomas
- Potocki, Lorraine
- Pottinger, Carrie
- Prasad, Chitra
- Prijoles, Eloise J.
- Ragge, Nicola K.
- Rea, Gillian
- Ruivenkamp, Claudia
- Rutz, Audrey
- Russo, Rossana Sanchez
- Santen, Gijs W.E.
- Schaefer, Elise
- Shashi, Vandana
- Sluga, Andrea
- Sotgiu, Stefano
- Steichen-Gersdorf, Elisabeth
- Sullivan, Jennifer A.
- Sun, Yu
- Suri, Mohnish
- Tedder, Matt
- Terhal, Paulien
- Tully, Ian
- White, Susan M.
- Xiao, Bing
- Robertson, Stephen P.
- Sadikovic, Bekim
- Menke, Leonie A.
2024
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American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2877-2886
- Giangiobbe, Sara
- Caraffi, Stefano Giuseppe
- Ivanovski, Ivan
- Maini, Ilenia
- Pollazzon, Marzia
- Rosato, Simonetta
- Trimarchi, Gabriele
- Lauriello, Anna
- Marinelli, Maria
- Nicoli, Davide
- Baldo, Chiara
- Laurie, Steven
- Flores‐Daboub, Josue
- Provenzano, Aldesia
- Andreucci, Elena
- Peluso, Francesca
- Rizzo, Renata
- Stewart, Helen
- Lachlan, Katherine
- Bayat, Allan
- Napoli, Manuela
- Carboni, Giorgia
- Baker, Janice
- Mendel, Alyssa
- Piatelli, Gianluca
- Pantaleoni, Chiara
- Mattina, Teresa
- Prontera, Paolo
- Mendelsohn, Nancy J.
- Giglio, Sabrina
- Zuffardi, Orsetta
- Garavelli, Livia
2020
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Genetics in Medicine Open, 2024, Vol.2, p.101063, Article 101063
2024
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BMC medical genomics, 2019-07, Vol.12 (1), p.105-105, Article 105
- Chater-Diehl, Eric
- Ejaz, Resham
- Cytrynbaum, Cheryl
- Siu, Michelle T
- Turinsky, Andrei
- Choufani, Sanaa
- Goodman, Sarah J
- Abdul-Rahman, Omar
- Bedford, Melanie
- Dorrani, Naghmeh
- Engleman, Kendra
- Flores-Daboub, Josue
- Genevieve, David
- Mendoza-Londono, Roberto
- Meschino, Wendy
- Perrin, Laurence
- Safina, Nicole
- Townshend, Sharron
- Scherer, Stephen W
- Anagnostou, Evdokia
- Piton, Amelie
- Deardorff, Matthew
- Brudno, Michael
- Chitayat, David
- Weksberg, Rosanna
2019
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Clinical case reports, 2023-01, Vol.11 (1), p.e6810-n/a
2023
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Pediatric research, 2022-11, Vol.92 (5), p.1364-1369
- Palmquist, Rachel
- Jenkins, Sabrina Malone
- Bentley, Dawn
- Miller, Christine
- Mao, Rong
- Meibos, Bailey
- Bayrak-Toydemir, Pinar
- Tvrdik, Tatiana
- Nadauld, Lincoln D.
- Bleyl, Steven B.
- Chowdhury, Shimul
- Ostrander, Betsy
- Flores-Daboub, Josue
- Longo, Nicola
- Tristani-Firouzi, Martin
- Hobbs, Charlotte
- Bonkowsky, Joshua L.
- Brunelli, Luca
2022
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American journal of human genetics, 2018-01, Vol.102 (1), p.27-43
- White, Janson J.
- Mazzeu, Juliana F.
- Coban-Akdemir, Zeynep
- Bayram, Yavuz
- Bahrambeigi, Vahid
- Hoischen, Alexander
- van Bon, Bregje W.M.
- Gezdirici, Alper
- Gulec, Elif Yilmaz
- Ramond, Francis
- Touraine, Renaud
- Thevenon, Julien
- Shinawi, Marwan
- Beaver, Erin
- Heeley, Jennifer
- Hoover-Fong, Julie
- Durmaz, Ceren D.
- Karabulut, Halil Gurhan
- Marzioglu-Ozdemir, Ebru
- Cayir, Atilla
- Duz, Mehmet B.
- Seven, Mehmet
- Price, Susan
- Ferreira, Barbara Merfort
- Vianna-Morgante, Angela M.
- Ellard, Sian
- Parrish, Andrew
- Stals, Karen
- Flores-Daboub, Josue
- Jhangiani, Shalini N.
- Gibbs, Richard A.
- Brunner, Han G.
- Sutton, V. Reid
- Lupski, James R.
- Carvalho, Claudia M.B.
2018
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Journal of medical genetics, 2020-11, Vol.57 (11), p.794-796
2020
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Blood, 2023-11, Vol.142 (Supplement 2), p.LBA-6-LBA-6
- Scott, Hamish S
- Zerella, Jiarna
- Homan, Claire
- Arts, Peer
- Lin, Steve
- Spinelli, Sam J
- Babic, Milena
- Brautigan, Peter J
- Truong, Lynda
- Arriola-Martinez, Luis
- Venugopal, Parvathy
- Feurstein, Simone K
- Larcher, Lise
- Sicre De Fontbrune, Flore
- Demirdas, Serwet
- De Munnik, Sonja
- Poirel, Hélène
- Brichard, Benedicte
- Dobbins, Sara
- Mutsaers, Pim
- DeMille, Desiree S
- Flores-Daboub, Josue
- Drazer, Michael W
- Crawford, Alison
- McCarrier, Julie
- Basel, Donald G
- Phillips, Kerry
- Poplawski, Nicola K
- Birdsey, Graeme
- Pirri, Daniela
- Ostergaard, Pia
- Simons, Annet
- Godley, Lucy
- Ross, David M.
- Hiwase, Devendra
- Soulier, Jean
- Brown, Anna
- Carmichael, Catherine
- Hahn, Christopher N.
2023
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Blood, 2024-07
- Zerella, Jiarna Rose
- Homan, Claire C
- Arts, Peer
- Lin, Xuzhu
- Spinelli, Sam John
- Venugopal, Parvathy
- Babic, Milena
- Brautigan, Peter
- Truong, Lynda
- Arriola-Martinez, Luis Alberto
- Moore, Sarah
- Hollins, Rachel
- Parker, Wendy
- Nguyen, Hung
- Kassahn, Karin S
- Branford, Susan
- Feurstein, Simone K
- Larcher, Lise
- Sicre de Fontbrune, Flore
- Demirdas, Serwet
- de Munnik, Sonja
- Poirel, Hélène A
- Brichard, Benedicte
- Mansour, Sahar
- Gordon, Kristiana
- Network, ERG Variants Research
- Wlodarski, Marcin W
- Koppayi, Ashwin Lakshman
- Dobbins, Sara
- Mutsaers, Pim G.N.J.
- Nichols, Kim E.
- Oak, Ninad
- DeMille, Desiree
- Mao, Rong
- Crawford, Ali
- McCarrier, Julie
- Basel, Donald
- Flores-Daboub, Josue
- Drazer, Michael W
- Phillips, Kerry
- Poplawski, Nicola
- Birdsey, Graeme M
- Pirri, Daniela
- Ostergaard, Pia
- Simons, Annet
- Godley, Lucy A
- Ross, David M
- Hiwase, Devendra K.
- Soulier, Jean
- Brown, Anna L
- Carmichael, Catherine L
- Scott, Hamish S
- Hahn, Christopher N
2024
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Neonatology (Basel, Switzerland), 2018-11, Vol.114 (4), p.337-340
2018
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S183
- Sheppard, Sarah
- Campbell, Ian
- Harr, Margaret
- Gold, Nina
- Li, Dong
- Bjornsson, Hans
- Cohen, Julie
- Fahrner, Jill
- Fatemi, Ali
- Harris, Jacqueline
- Nowak, Catherine
- Stevens, Cathy
- Grand, Katheryn
- Au, Margaret
- Graham, John
- Sanchez-Lara, Pedro
- Del Campo, Miguel
- Jones, Marilyn
- Abdul-Rahman, Omar
- Alkuraya, Fowzan
- Bassetti, Jennifer
- Bergstrom, Katherine
- Bhoj, Elizabeth
- Dugan, Sarah
- Kaplan, Julie
- Derar, Nada
- Gripp, Karen W.
- Hauser, Natalie
- Innes, Micheil
- Keena, Beth
- Kodra, Neslida
- Miller, Rebecca
- Nelson, Beverly
- Nowaczyk, Malgorzata
- Rahbeeni, Zuhair
- Ben-Shachar, Shay
- Shieh, Joseph
- Slavotinek, Anne
- Sobering, Andrew
- Abbott, Mary-Alice
- Allain, Dawn
- Amlie-Wolf, Louise
- Billie Au, Ping Yee
- Bedoukian, Emma
- Beek, Geoffrey
- Barry, James
- Berg, Janet
- Bernstein, Jonathan
- Cytrynbaum, Cheryl
- Chung, Brian Hon-Yin
- Donoghue, Sarah
- Dorrani, Naghmeh
- Eaton, Alison
- Flores-Daboub, Josue
- Dubbs, Holly
- Felix, Carolyn
- Fong, Chin-To
- Fung, Jasmine Lee-Fong
- Gangaram, Balram
- Goldstein, Amy
- Greenberg, Rotem
- Ha, Thoa
- Hersh, Joseph
- Izumi, Kosuke
- Kallish, Staci
- Kravets, Elijah
- Kwok, Pui-Yan
- Jobling, Rebekah
- Knight-Johnson, Amy
- Kushner, Jessica
- Lee, Bo Hoon
- Levin, Brooke
- Lindstrom, Kristin
- Manickam, Kandamurugu
- Mardach, Rebecca
- McCormick, Elizabeth
- McLeod, D. Ross
- Mentch, Frank
- Minks, Kelly
- Muraresku, Colleen
- Nelson, Stanley
- Porazzi, Patrizia
- Pichurin, Pavel
- Powell-Hamilton, Nina
- Powis, Zoe
- Ritter, Alyssa
- Rogers, Caleb
- Rohena, Luis
- Ronspies, Carey
- Schroeder, Audrey
- Stark, Zornitza
- Starr, Lois
- Stoler, Joan
- Suwannarat, Pim
- Velinov, Milen
- Weksberg, Rosanna
- Wilnai, Yael
- Zadeh, Neda
- Zand, Dina
- Falk, Marni
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S183-S183
- Campbell, Ian
- Harr, Margaret
- Gold, Nina
- Li, Dong
- Bjornsson, Hans
- Cohen, Julie
- Fahrner, Jill
- Fatemi, Ali
- Harris, Jacqueline
- Nowak, Catherine
- Stevens, Cathy
- Grand, Katheryn
- Au, Margaret
- Graham, John
- Sanchez-Lara, Pedro
- Del Campo, Miguel
- Jones, Marilyn
- Abdul-Rahman, Omar
- Alkuraya, Fowzan
- Bassetti, Jennifer
- Bergstrom, Katherine
- Bhoj, Elizabeth
- Dugan, Sarah
- Kaplan, Julie
- Derar, Nada
- Gripp, Karen W.
- Hauser, Natalie
- Innes, Micheil
- Keena, Beth
- Kodra, Neslida
- Miller, Rebecca
- Nelson, Beverly
- Nowaczyk, Malgorzata
- Rahbeeni, Zuhair
- Ben-Shachar, Shay
- Shieh, Joseph
- Slavotinek, Anne
- Sobering, Andrew
- Abbott, Mary-Alice
- Allain, Dawn
- Amlie-Wolf, Louise
- Billie Au, Ping Yee
- Bedoukian, Emma
- Beek, Geoffrey
- Barry, James
- Berg, Janet
- Bernstein, Jonathan
- Cytrynbaum, Cheryl
- Chung, Brian Hon-Yin
- Donoghue, Sarah
- Dorrani, Naghmeh
- Eaton, Alison
- Flores-Daboub, Josue
- Dubbs, Holly
- Felix, Carolyn
- Fong, Chin-To
- Fung, Jasmine Lee-Fong
- Gangaram, Balram
- Goldstein, Amy
- Greenberg, Rotem
- Ha, Thoa
- Hersh, Joseph
- Izumi, Kosuke
- Kallish, Staci
- Kwok, Pui-Yan
- Jobling, Rebekah
- Knight-Johnson, Amy
- Kushner, Jessica
- Lee, Bo Hoon
- Levin, Brooke
- Lindstrom, Kristin
- Manickam, Kandamurugu
- Mardach, Rebecca
- McCormick, Elizabeth
- McLeod, D. Ross
- Mentch, Frank
- Minks, Kelly
- Muraresku, Colleen
- Nelson, Stanley
- Porazzi, Patrizia
- Pichurin, Pavel
- Powell-Hamilton, Nina
- Powis, Zoe
- Ritter, Alyssa
- Rohena, Luis
- Ronspies, Carey
- Schroeder, Audrey
- Stark, Zornitza
- Starr, Lois
- Stoler, Joan
- Suwannarat, Pim
- Velinov, Milen
- Weksberg, Rosanna
- Wilnai, Yael
- Zadeh, Neda
- Zand, Dina
- Falk, Marni
- Hakonarson, Hakon
- Zackai, Elaine
- Quintero-Rivera, Fabiola
2021
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Neonatology, 2018, Vol.114 (4), p.337-340
2018
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