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Cell stem cell, 2015-05, Vol.16 (5), p.517-532
2015
Link zum Volltext
American journal of human genetics, 2021-10, Vol.108 (10), p.1981-2005
- Mitani, Tadahiro
- Isikay, Sedat
- Gezdirici, Alper
- Gulec, Elif Yilmaz
- Punetha, Jaya
- Fatih, Jawid M.
- Herman, Isabella
- Akay, Gulsen
- Du, Haowei
- Calame, Daniel G.
- Ayaz, Akif
- Tos, Tulay
- Yesil, Gozde
- Aydin, Hatip
- Geckinli, Bilgen
- Elcioglu, Nursel
- Candan, Sukru
- Sezer, Ozlem
- Erdem, Haktan Bagis
- Gul, Davut
- Demiral, Emine
- Elmas, Muhsin
- Yesilbas, Osman
- Kilic, Betul
- Gungor, Serdal
- Ceylan, Ahmet C.
- Bozdogan, Sevcan
- Ozalp, Ozge
- Cicek, Salih
- Aslan, Huseyin
- Yalcintepe, Sinem
- Topcu, Vehap
- Bayram, Yavuz
- Grochowski, Christopher M.
- Jolly, Angad
- Dawood, Moez
- Duan, Ruizhi
- Jhangiani, Shalini N.
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M.
- Marafi, Dana
- Akdemir, Zeynep Coban
- Karaca, Ender
- Carvalho, Claudia M.B.
- Gibbs, Richard A.
- Posey, Jennifer E.
- Lupski, James R.
- Pehlivan, Davut
2021
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Brain (London, England : 1878), 2022-04, Vol.145 (3), p.909-924
- Marafi, Dana
- Fatih, Jawid M
- Kaiyrzhanov, Rauan
- Ferla, Matteo P
- Gijavanekar, Charul
- Al-Maraghi, Aljazi
- Liu, Ning
- Sites, Emily
- Alsaif, Hessa S
- Al-Owain, Mohammad
- Zakkariah, Mohamed
- El-Anany, Ehab
- Guliyeva, Ulviyya
- Guliyeva, Sughra
- Gaba, Colette
- Haseeb, Ateeq
- Alhashem, Amal M
- Danish, Enam
- Karageorgou, Vasiliki
- Beetz, Christian
- Subhi, Alaa A
- Mullegama, Sureni V
- Torti, Erin
- Sebastin, Monisha
- Breilyn, Margo Sheck
- Duberstein, Susan
- Abdel-Hamid, Mohamed S
- Mitani, Tadahiro
- Du, Haowei
- Rosenfeld, Jill A
- Jhangiani, Shalini N
- Coban Akdemir, Zeynep
- Gibbs, Richard A
- Taylor, Jenny C
- Fakhro, Khalid A
- Hunter, Jill V
- Pehlivan, Davut
- Zaki, Maha S
- Gleeson, Joseph G
- Maroofian, Reza
- Houlden, Henry
- Posey, Jennifer E
- Sutton, V Reid
- Alkuraya, Fowzan S
- Elsea, Sarah H
- Lupski, James R
2022
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Genetics in medicine, 2021-12, Vol.23 (12), p.2455-2460
- Calame, Daniel G
- Bakhtiari, Somayeh
- Logan, Rachel
- Coban-Akdemir, Zeynep
- Du, Haowei
- Mitani, Tadahiro
- Fatih, Jawid M
- Hunter, Jill V
- Herman, Isabella
- Pehlivan, Davut
- Jhangiani, Shalini N
- Person, Richard
- Schnur, Rhonda E
- Jin, Sheng Chih
- Bilguvar, Kaya
- Posey, Jennifer E
- Koh, Sookyong
- Firouzabadi, Saghar G
- Alehabib, Elham
- Tafakhori, Abbas
- Esmkhani, Sahra
- Gibbs, Richard A
- Noureldeen, Mahmoud M
- Zaki, Maha S
- Marafi, Dana
- Darvish, Hossein
- Kruer, Michael C
- Lupski, James R
2021
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Genetics in Medicine Open, 2024, Vol.2, p.101830, Article 101830
- Coban-Akdemir, Zeynep
- Song, Xiaofei
- Ceballos, Francisco C.
- Pehlivan, Davut
- Karaca, Ender
- Bayram, Yavuz
- Mitani, Tadahiro
- Gambin, Tomasz
- Bozkurt-Yozgatli, Tugce
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Lewis, Richard A.
- Liu, Pengfei
- Boerwinkle, Eric
- Hamosh, Ada
- Gibbs, Richard A.
- Sutton, V. Reid
- Sobreira, Nara
- Carvalho, Claudia M.B.
- Shaw, Chad A.
- Posey, Jennifer E.
- Valle, David
- Lupski, James R.
2024
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Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.610-627
- Marafi, Dana
- Mitani, Tadahiro
- Isikay, Sedat
- Hertecant, Jozef
- Almannai, Mohammed
- Manickam, Kandamurugu
- Abou Jamra, Rami
- El‐Hattab, Ayman W.
- Rajah, Jaishen
- Fatih, Jawid M.
- Du, Haowei
- Karaca, Ender
- Bayram, Yavuz
- Punetha, Jaya
- Rosenfeld, Jill A.
- Jhangiani, Shalini N.
- Boerwinkle, Eric
- Akdemir, Zeynep C.
- Erdin, Serkan
- Hunter, Jill V.
- Gibbs, Richard A.
- Pehlivan, Davut
- Posey, Jennifer E.
- Lupski, James R.
2020
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Annals of clinical and translational neurology, 2021-10, Vol.8 (10), p.2052-2058
2021
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Journal of burn care & research, 2024-02
2024
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American journal of human genetics, 2021-07, Vol.108 (7), p.1239-1250
2021
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Human molecular genetics, 2022-08, Vol.31 (16), p.2751-2765
2022
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No to hattatsu, 2013-01, Vol.45 (1), p.53
2013
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Genetics in medicine, 2022-04, Vol.24 (4), p.784-797
- Lake, Nicole J.
- Sobreira, Nara
- Chong, Jessica X.
- Chadwick, Lisa H.
- Coban-Akdemir, Zeynep H.
- Doheny, Kimberly F.
- Lek, Monkol
- Jhangiani, Shalini N.
- Lifton, Richard P.
- Matise, Tara C.
- Lupski, James R.
- Valle, David
- Nickerson, Deborah A.
- Akay, Gulsen
- Antonescu, Corina
- Austin-Tse, Christina A.
- Bacus, Tamara J.
- Bahrambeigi, Vahid
- Belmont, John W.
- Below, Jennifer E.
- Bilguvar, Kaya
- Boehm, Corinne D.
- Boone, Philip M.
- Calame, Daniel
- Cao, Xiaolong
- Carvalho, Claudia
- Chander, Varuna
- Clarke, Declan
- Delano, Kayla
- Doddapaneni, Harshavardhan
- Du, Renqian
- Fatih, Jawid
- Francioli, Laurent C.
- Fu, Jack
- Gambin, Tomasz
- Gandhi, Mira
- Ganesh, Vijay S.
- Garimella, Kiran V.
- Gauthier, Laura D.
- Gonzaga-Jauregui, Claudia
- Grochowski, Christopher M.
- Gu, Shen
- Hansen, Adam
- Harmanci, Arif O.
- Huang, Yongqing
- Johanson, Eric
- Karaca, Ender
- Kumar, Sushant
- Laricchia, Kristen M.
- Ling, Hua
- Lipson, Rachel B.
- MacMillan, Melissa P.
- Marshall, Jamie L.
- Martin, Renan
- McGee, Sean
- Mekonnen, Betselote
- Mullen, Thomas E.
- Murugan, Mullai
- Muzny, Donna M.
- Myers, Ben
- Neira, Juanita
- Nielsen, Patrick M.
- Nudelman, Natalie
- O’Leary, Melanie C.
- Pais, Lynn S.
- Patterson, Karynne
- Pehlivan, Davut
- Penney, Samantha
- Pierce-Hoffman, Emma
- Radhakrishnan, Aparna
- Richardson, Matthew A.
- Roote, Gwendolin T.
- Sabo, Aniko
- Scott, Daryl A.
- Shaw, Chad A.
- Shelford, Tameka
- Shively, Kathryn M.
- Snow, Hana
- Solomonson, Matthew
- Song, Xiaofei
- Stephan, Taylorlyn
- Sutton, V. Reid
- Sveden, Abigail
- Valivullah, Zaheer
- Wang, Lu
- Wangler, Michael F.
- Watts, Nicholas A.
- Wilson, Michael W.
- Wiszniewski, Wojciech
- Witmer, Dane
- Witzgall, Lauren
- Wohler, Elizabeth
- Wu, Nan
- Yi, Qian
- Zeiger, Jordan E.
- Zhang, Chaofan
- Zhang, Yeting
- Zoghbi, Huda
- van den Veyver, Igna
- O’Donnell-Luria, Anne
2022
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Annals of neurology, 2021-04, Vol.89 (4), p.828-833
- Meng, Linyan
- Isohanni, Pirjo
- Shao, Yunru
- Graham, Brett H.
- Hickey, Scott E.
- Brooks, Stephanie
- Suomalainen, Anu
- Joset, Pascal
- Steindl, Katharina
- Rauch, Anita
- Hackenberg, Annette
- High, Frances A.
- Armstrong‐Javors, Amy
- Mencacci, Niccolò E.
- Gonzàlez‐Latapi, Paulina
- Kamel, Walaa A.
- Al‐Hashel, Jasem Y.
- Bustos, Bernabé I.
- Hernandez, Alejandro V.
- Krainc, Dimitri
- Lubbe, Steven J.
- Van Esch, Hilde
- De Luca, Chiara
- Ballon, Katleen
- Ravelli, Claudia
- Burglen, Lydie
- Qebibo, Leila
- Calame, Daniel G.
- Mitani, Tadahiro
- Marafi, Dana
- Pehlivan, Davut
- Saadi, Nebal W.
- Sahin, Yavuz
- Maroofian, Reza
- Efthymiou, Stephanie
- Houlden, Henry
- Maqbool, Shazia
- Rahman, Fatima
- Gu, Shen
- Posey, Jennifer E.
- Lupski, James R.
- Hunter, Jill V.
- Wangler, Michael F.
- Carroll, Christopher J.
- Yang, Yaping
2021
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American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.1972-1980
2021
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Brain (London, England : 1878), 2020-01, Vol.143 (1), p.112-130
- Van Bergen, Nicole J
- Guo, Yiran
- Al-Deri, Noraldin
- Lipatova, Zhanna
- Stanga, Daniela
- Zhao, Sarah
- Murtazina, Rakhilya
- Gyurkovska, Valeriya
- Pehlivan, Davut
- Mitani, Tadahiro
- Gezdirici, Alper
- Antony, Jayne
- Collins, Felicity
- Willis, Mary J H
- Coban Akdemir, Zeynep H
- Liu, Pengfei
- Punetha, Jaya
- Hunter, Jill V
- Jhangiani, Shalini N
- Fatih, Jawid M
- Rosenfeld, Jill A
- Posey, Jennifer E
- Gibbs, Richard A
- Karaca, Ender
- Massey, Sean
- Ranasinghe, Thisara G
- Sleiman, Patrick
- Troedson, Chris
- Lupski, James R
- Sacher, Michael
- Segev, Nava
- Hakonarson, Hakon
- Christodoulou, John
2020
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American journal of human genetics, 2019-11, Vol.105 (5), p.1005-1015
- Mitani, Tadahiro
- Punetha, Jaya
- Akalin, Ibrahim
- Pehlivan, Davut
- Dawidziuk, Mateusz
- Coban Akdemir, Zeynep
- Yilmaz, Sarenur
- Aslan, Ezgi
- Hunter, Jill V.
- Hijazi, Hadia
- Grochowski, Christopher M.
- Jhangiani, Shalini N.
- Karaca, Ender
- Fatih, Jawid M.
- Iwanowski, Piotr
- Gambin, Tomasz
- Wlasienko, Pawel
- Goszczanska-Ciuchta, Alicja
- Bekiesinska-Figatowska, Monika
- Hosseini, Masoumeh
- Arzhangi, Sanaz
- Najmabadi, Hossein
- Rosenfeld, Jill A.
- Du, Haowei
- Marafi, Dana
- Blaser, Susan
- Teitelbaum, Ronni
- Silver, Rachel
- Posey, Jennifer E.
- Ropers, Hans-Hilger
- Gibbs, Richard A.
- Wiszniewski, Wojciech
- Lupski, James R.
- Chitayat, David
- Kahrizi, Kimia
- Gawlinski, Pawel
2019
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Brain (London, England : 1878), 2024-04, Vol.147 (4), p.1436-1456
- Kaiyrzhanov, Rauan
- Rad, Aboulfazl
- Lin, Sheng-Jia
- Bertoli-Avella, Aida
- Kallemeijn, Wouter W
- Godwin, Annie
- Zaki, Maha S
- Huang, Kevin
- Lau, Tracy
- Petree, Cassidy
- Efthymiou, Stephanie
- Karimiani, Ehsan Ghayoor
- Hempel, Maja
- Normand, Elizabeth A
- Rudnik-Schöneborn, Sabine
- Schatz, Ulrich A
- Baggelaar, Marc P
- Ilyas, Muhammad
- Sultan, Tipu
- Alvi, Javeria Raza
- Ganieva, Manizha
- Fowler, Ben
- Aanicai, Ruxandra
- Tayfun, Gulsen Akay
- Al Saman, Abdulaziz
- Alswaid, Abdulrahman
- Amiri, Nafise
- Asilova, Nilufar
- Shotelersuk, Vorasuk
- Yeetong, Patra
- Azam, Matloob
- Babaei, Meisam
- Monajemi, Gholamreza Bahrami
- Mohammadi, Pouria
- Samie, Saeed
- Banu, Selina Husna
- Pinto Basto, Jorge
- Kortüm, Fanny
- Bauer, Mislen
- Bauer, Peter
- Beetz, Christian
- Garshasbi, Masoud
- Issa, Awatif Hameed
- Eyaid, Wafaa
- Ahmed, Hind
- Hashemi, Narges
- Hassanpour, Kazem
- Herman, Isabella
- Ibrohimov, Sherozjon
- Abdul-Majeed, Ban A
- Imdad, Maria
- Isrofilov, Maksudjon
- Kaiyal, Qassem
- Khan, Suliman
- Kirmse, Brian
- Koster, Janet
- Lourenço, Charles Marques
- Mitani, Tadahiro
- Moldovan, Oana
- Murphy, David
- Najafi, Maryam
- Pehlivan, Davut
- Rocha, Maria Eugenia
- Salpietro, Vincenzo
- Schmidts, Miriam
- Shalata, Adel
- Mahroum, Mohammad
- Talbeya, Jawabreh Kassem
- Taylor, Robert W
- Vazquez, Dayana
- Vetro, Annalisa
- Waterham, Hans R
- Zaman, Mashaya
- Schrader, Tina A
- Chung, Wendy K
- Guerrini, Renzo
- Lupski, James R
- Gleeson, Joseph
- Suri, Mohnish
- Jamshidi, Yalda
- Bhatia, Kailash P
- Vona, Barbara
- Schrader, Michael
- Severino, Mariasavina
- Guille, Matthew
- Tate, Edward W
- Varshney, Gaurav K
- Houlden, Henry
- Maroofian, Reza
2024
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Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725
- Dworschak, Gabriel C
- Punetha, Jaya
- Kalanithy, Jeshurun C
- Mingardo, Enrico
- Erdem, Haktan B
- Akdemir, Zeynep C
- Karaca, Ender
- Mitani, Tadahiro
- Marafi, Dana
- Fatih, Jawid M
- Jhangiani, Shalini N
- Hunter, Jill V
- Dakal, Tikam Chand
- Dhabhai, Bhanupriya
- Dabbagh, Omar
- Alsaif, Hessa S
- Alkuraya, Fowzan S
- Maroofian, Reza
- Houlden, Henry
- Efthymiou, Stephanie
- Dominik, Natalia
- Salpietro, Vincenzo
- Sultan, Tipu
- Haider, Shahzad
- Bibi, Farah
- Thiele, Holger
- Hoefele, Julia
- Riedhammer, Korbinian M
- Wagner, Matias
- Guella, Ilaria
- Demos, Michelle
- Keren, Boris
- Buratti, Julien
- Charles, Perrine
- Nava, Caroline
- Héron, Delphine
- Heide, Solveig
- Valkanas, Elise
- Waddell, Leigh B
- Jones, Kristi J
- Oates, Emily C
- Cooper, Sandra T
- MacArthur, Daniel
- Syrbe, Steffen
- Ziegler, Andreas
- Platzer, Konrad
- Okur, Volkan
- Chung, Wendy K
- O'Shea, Sarah A
- Alcalay, Roy
- Fahn, Stanley
- Mark, Paul R
- Guerrini, Renzo
- Vetro, Annalisa
- Hudson, Beth
- Schnur, Rhonda E
- Hoganson, George E
- Burton, Jennifer E
- McEntagart, Meriel
- Lindenberg, Tobias
- Yilmaz, Öznur
- Odermatt, Benjamin
- Pehlivan, Davut
- Posey, Jennifer E
- Lupski, James R
- Reutter, Heiko
2021
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Brain (London, England : 1878), 2020-10, Vol.143 (10), p.e83-e83
2020
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Developmental cell, 2022-10, Vol.57 (20), p.2381-2396.e13
- Qian, Xuyu
- DeGennaro, Ellen M
- Talukdar, Maya
- Akula, Shyam K
- Lai, Abbe
- Shao, Diane D
- Gonzalez, Dilenny
- Marciano, Jack H
- Smith, Richard S
- Hylton, Norma K
- Yang, Edward
- Bazan, J Fernando
- Barrett, Lee
- Yeh, Rebecca C
- Hill, R Sean
- Beck, Samantha G
- Otani, Aoi
- Angad, Jolly
- Mitani, Tadahiro
- Posey, Jennifer E
- Pehlivan, Davut
- Calame, Daniel
- Aydin, Hatip
- Yesilbas, Osman
- Parks, Kendall C
- Argilli, Emanuela
- England, Eleina
- Im, Kiho
- Taranath, Ajay
- Scott, Hamish S
- Barnett, Christopher P
- Arts, Peer
- Sherr, Elliott H
- Lupski, James R
- Walsh, Christopher A
2022
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American journal of human genetics, 2023-04, Vol.110 (4), p.681-690
- Lecca, Mauro
- Pehlivan, Davut
- Suñer, Damià Heine
- Weiss, Karin
- Coste, Thibault
- Zweier, Markus
- Oktay, Yavuz
- Danial-Farran, Nada
- Rosti, Vittorio
- Bonasoni, Maria Paola
- Malara, Alessandro
- Contrò, Gianluca
- Zuntini, Roberta
- Pollazzon, Marzia
- Pascarella, Rosario
- Neri, Alberto
- Fusco, Carlo
- Marafi, Dana
- Mitani, Tadahiro
- Posey, Jennifer Ellen
- Bayramoglu, Sadik Etka
- Gezdirici, Alper
- Hernandez-Rodriguez, Jessica
- Cladera, Emilia Amengual
- Miravet, Elena
- Roldan-Busto, Jorge
- Ruiz, María Angeles
- Bauzá, Cristofol Vives
- Ben-Sira, Liat
- Sigaudy, Sabine
- Begemann, Anaïs
- Unger, Sheila
- Güngör, Serdal
- Hiz, Semra
- Sonmezler, Ece
- Zehavi, Yoav
- Jerdev, Michael
- Balduini, Alessandra
- Zuffardi, Orsetta
- Horvath, Rita
- Lochmüller, Hanns
- Rauch, Anita
- Garavelli, Livia
- Tournier-Lasserve, Elisabeth
- Spiegel, Ronen
- Lupski, James R.
- Errichiello, Edoardo
2023
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Kidney international, 2022-05, Vol.101 (5), p.1039-1053
- Münch, Johannes
- Engesser, Marie
- Schönauer, Ria
- Hamm, J. Austin
- Hartig, Christin
- Hantmann, Elena
- Akay, Gulsen
- Pehlivan, Davut
- Mitani, Tadahiro
- Coban Akdemir, Zeynep
- Tüysüz, Beyhan
- Shirakawa, Toshihiko
- Dateki, Sumito
- Claus, Laura R.
- van Eerde, Albertien M.
- Smol, Thomas
- Devisme, Louise
- Franquet, Hélène
- Attié-Bitach, Tania
- Wagner, Timo
- Bergmann, Carsten
- Höhn, Anne Kathrin
- Shril, Shirlee
- Pollack, Ari
- Wenger, Tara
- Scott, Abbey A.
- Paolucci, Sarah
- Buchan, Jillian
- Gabriel, George C.
- Posey, Jennifer E.
- Lupski, James R.
- Petit, Florence
- McCarthy, Andrew A.
- Pazour, Gregory J.
- Lo, Cecilia W.
- Popp, Bernt
- Halbritter, Jan
2022
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Genetics in medicine, 2023-01, Vol.25 (1), p.90-102
- Saida, Ken
- Maroofian, Reza
- Sengoku, Toru
- Mitani, Tadahiro
- Pagnamenta, Alistair T.
- Marafi, Dana
- Zaki, Maha S.
- O’Brien, Thomas J.
- Karimiani, Ehsan Ghayoor
- Kaiyrzhanov, Rauan
- Takizawa, Marina
- Ohori, Sachiko
- Leong, Huey Yin
- Akay, Gulsen
- Galehdari, Hamid
- Zamani, Mina
- Romy, Ratna
- Carroll, Christopher J.
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Malek, Hadis
- Ahangari, Najmeh
- Tomoum, Hoda
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Murphy, David
- Dominik, Natalia
- Elbendary, Hasnaa M.
- Rafat, Karima
- Yilmaz, Sanem
- Kanmaz, Seda
- Serin, Mine
- Krishnakumar, Deepa
- Gardham, Alice
- Maw, Anna
- Rao, Tekki Sreenivasa
- Alsubhi, Sarah
- Srour, Myriam
- Buhas, Daniela
- Jewett, Tamison
- Goldberg, Rachel E.
- Shamseldin, Hanan
- Frengen, Eirik
- Misceo, Doriana
- Strømme, Petter
- Magliocco Ceroni, José Ricardo
- Kim, Chong Ae
- Yesil, Gozde
- Sengenc, Esma
- Guler, Serhat
- Hull, Mariam
- Parnes, Mered
- Aktas, Dilek
- Anlar, Banu
- Bayram, Yavuz
- Pehlivan, Davut
- Posey, Jennifer E.
- Alavi, Shahryar
- Madani Manshadi, Seyed Ali
- Alzaidan, Hamad
- Al-Owain, Mohammad
- Alabdi, Lama
- Abdulwahab, Ferdous
- Sekiguchi, Futoshi
- Hamanaka, Kohei
- Fujita, Atsushi
- Uchiyama, Yuri
- Mizuguchi, Takeshi
- Miyatake, Satoko
- Miyake, Noriko
- Elshafie, Reem M.
- Salayev, Kamran
- Guliyeva, Ulviyya
- Alkuraya, Fowzan S.
- Gleeson, Joseph G.
- Monaghan, Kristin G.
- Langley, Katherine G.
- Yang, Hui
- Motavaf, Mahsa
- Safari, Saeid
- Alipour, Mozhgan
- Ogata, Kazuhiro
- Brown, André E.X.
- Lupski, James R.
- Houlden, Henry
- Matsumoto, Naomichi
2023
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American journal of human genetics, 2022-09, Vol.109 (9), p.1713-1723
- Marafi, Dana
- Kozar, Nina
- Duan, Ruizhi
- Bradley, Stephen
- Yokochi, Kenji
- Al Mutairi, Fuad
- Saadi, Nebal Waill
- Whalen, Sandra
- Brunet, Theresa
- Kotzaeridou, Urania
- Choukair, Daniela
- Keren, Boris
- Nava, Caroline
- Kato, Mitsuhiro
- Arai, Hiroshi
- Froukh, Tawfiq
- Faqeih, Eissa Ali
- AlAsmari, Ali M.
- Saleh, Mohammed M.
- Pinto e Vairo, Filippo
- Pichurin, Pavel N.
- Klee, Eric W.
- Schmitz, Christopher T.
- Grochowski, Christopher M.
- Mitani, Tadahiro
- Herman, Isabella
- Calame, Daniel G.
- Fatih, Jawid M.
- Du, Haowei
- Coban-Akdemir, Zeynep
- Pehlivan, Davut
- Jhangiani, Shalini N.
- Gibbs, Richard A.
- Miyatake, Satoko
- Matsumoto, Naomichi
- Wagstaff, Laura J.
- Posey, Jennifer E.
- Lupski, James R.
- Meijer, Dies
- Wagner, Matias
2022
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American journal of human genetics, 2022-11, Vol.109 (11), p.2068-2079
- Khalaf-Nazzal, Reham
- Fasham, James
- Inskeep, Katherine A.
- Blizzard, Lauren E.
- Leslie, Joseph S.
- Wakeling, Matthew N.
- Ubeyratna, Nishanka
- Mitani, Tadahiro
- Griffith, Jennifer L.
- Baker, Wisam
- Al-Hijawi, Fida’
- Keough, Karen C.
- Gezdirici, Alper
- Pena, Loren
- Spaeth, Christine G.
- Turnpenny, Peter D.
- Walsh, Joseph R.
- Ray, Randall
- Neilson, Amber
- Kouranova, Evguenia
- Cui, Xiaoxia
- Curiel, David T.
- Pehlivan, Davut
- Akdemir, Zeynep Coban
- Posey, Jennifer E.
- Lupski, James R.
- Dobyns, William B.
- Stottmann, Rolf W.
- Crosby, Andrew H.
- Baple, Emma L.
2022
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Erscheinungsjahr
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Thema
- Life Sciences & Biomedicine
- Science & Technology
- Humans
- Genetics & Heredity
- Phenotype
- Animals
- Male
- Neurodevelopmental Disorders - Genetics
- Child
- Female
- Neurodevelopmental Disorders
- Clinical Neurology
- Neurosciences
- Neurosciences & Neurology
- Pedigree
- Alleles
- Child, Preschool
- Exome Sequencing
- Infant
- Intellectual Disabilities
Kollektion
- Journals@Ovid Complete
- EZB Free E-Journals
- Wiley-Blackwell Journals
- IngentaConnect Journals
- Wiley Online Library
- Elsevier ScienceDirect Journals Complete
- NUS Single-Journal Subscriptions
- SpringerLink
- Oxford University Press Journals Current
- Oxford Journals 2020 Medicine
- Nature Publishing Group website
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Taylor & Francis Journals Complete
- IngentaConnect Journals
- SAGE Complete
Zeitschrift / Serie
- American Journal Of Human Genetics
- American Journal Of Medical Genetics. Part A
- Genetics In Medicine
- Brain
- Annals Of Neurology
- Human Mutation
- Annals Of Clinical And Translational Neurology
- Denki Gakkai Ronbunshi. B, Enerugi, Denki Kiki, Denryoku
- Journal Of Microbiological Methods
- The American Journal Of Human Genetics
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