Sortiert nach
Annual review of genomics and human genetics, 2020-08, Vol.21 (1), p.231-261
2020
Volltextzugriff (PDF)
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy
2019
Volltextzugriff (PDF)
American journal of human genetics, 2018-09, Vol.103 (3), p.431-439
- Ghosh, Shereen G.
- Becker, Kerstin
- Huang, He
- Dixon-Salazar, Tracy
- Chai, Guoliang
- Salpietro, Vincenzo
- Al-Gazali, Lihadh
- Waisfisz, Quinten
- Wang, Haicui
- Vaux, Keith K.
- Stanley, Valentina
- Manole, Andreea
- Akpulat, Ugur
- Weiss, Marjan M.
- Efthymiou, Stephanie
- Hanna, Michael G.
- Minetti, Carlo
- Striano, Pasquale
- Pisciotta, Livia
- De Grandis, Elisa
- Altmüller, Janine
- Weixler, Lisa
- Nürnberg, Peter
- Thiele, Holger
- Yis, Uluc
- Okur, Tuncay Derya
- Polat, Ayse Ipek
- Amiri, Nafise
- Doosti, Mohammad
- Karimani, Ehsan Ghayoor
- Toosi, Mehran B.
- Haddad, Gabriel
- Karakaya, Mert
- Wirth, Brunhilde
- van Hagen, Johanna M.
- Wolf, Nicole I.
- Maroofian, Reza
- Houlden, Henry
- Cirak, Sebahattin
- Gleeson, Joseph G.
2018
Volltextzugriff (PDF)
Chaos (Woodbury, N.Y.), 2019-11, Vol.29 (11), p.113128
2019
Volltextzugriff (PDF)
Genetics in medicine, 2020-03, Vol.22 (3), p.511-523
- Pergande, Matthias
- Motameny, Susanne
- Özdemir, Özkan
- Kreutzer, Mona
- Wang, Haicui
- Daimagüler, Hülya-Sevcan
- Becker, Kerstin
- Karakaya, Mert
- Ehrhardt, Harald
- Elcioglu, Nursel
- Ostojic, Slavica
- Chao, Cho-Ming
- Kawalia, Amit
- Duman, Özgür
- Koy, Anne
- Hahn, Andreas
- Reimann, Jens
- Schoner, Katharina
- Schänzer, Anne
- Westhoff, Jens H.
- Schwaibold, Eva Maria Christina
- Cossee, Mireille
- Imbert-Bouteille, Marion
- von Pein, Harald
- Haliloglu, Göknur
- Topaloglu, Haluk
- Altmüller, Janine
- Nürnberg, Peter
- Thiele, Holger
- Heller, Raoul
- Cirak, Sebahattin
2020
Volltextzugriff (PDF)
Lab animal, 2020-09, Vol.49 (9), p.259
2020
Volltextzugriff (PDF)
iScience, 2020-08, Vol.23 (8), p.101418-101418, Article 101418
2020
Volltextzugriff (PDF)
Brain (London, England : 1878), 2017-10, Vol.140 (10), p.e61-e61
2017
Volltextzugriff (PDF)
iScience, 2022-01, Vol.25 (1), p.103529-103529, Article 103529
2022
Volltextzugriff (PDF)
Neuromuscular disorders : NMD, 2019-10, Vol.29 (10), p.776-785
- Gualandi, Francesca
- Sette, Elisabetta
- Fortunato, Fernanda
- Bigoni, Stefania
- De Grandis, Domenico
- Scotton, Chiara
- Selvatici, Rita
- Neri, Marcella
- Incensi, Alex
- Liguori, Rocco
- Storbeck, Markus
- Karakaya, Mert
- Simioni, Valentina
- Squarzoni, Stefano
- Timmerman, Vincent
- Wirth, Brunhilde
- Donadio, Vincenzo
- Tugnoli, Valeria
- Ferlini, Alessandra
2019
Volltextzugriff (PDF)
Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2838-2850
- Wang, Haicui
- Salter, Claire G
- Refai, Osama
- Hardy, Holly
- Barwick, Katy E S
- Akpulat, Ugur
- Kvarnung, Malin
- Chioza, Barry A
- Harlalka, Gaurav
- Taylan, Fulya
- Sejersen, Thomas
- Wright, Jane
- Zimmerman, Holly H
- Karakaya, Mert
- Stüve, Burkhardt
- Weis, Joachim
- Schara, Ulrike
- Russell, Mark A
- Abdul-Rahman, Omar A
- Chilton, John
- Blakely, Randy D
- Baple, Emma L
- Cirak, Sebahattin
- Crosby, Andrew H
2017
Volltextzugriff (PDF)
Flow (Cambridge, England), 2021-01, Vol.1, Article E7
2021
Volltextzugriff (PDF)
Genetics in medicine, 2020-08, Vol.22 (8), p.1426-1428
- Pergande, Matthias
- Motameny, Susanne
- Özdemir, Özkan
- Kreutzer, Mona
- Wang, Haicui
- Daimagüler, Hülya-Sevcan
- Becker, Kerstin
- Karakaya, Mert
- Ehrhardt, Harald
- Elcioglu, Nursel
- Ostojic, Slavica
- Chao, Cho-Ming
- Kawalia, Amit
- Duman, Özgür
- Koy, Anne
- Hahn, Andreas
- Reimann, Jens
- Schoner, Katharina
- Schänzer, Anne
- Westhoff, Jens H
- Schwaibold, Eva Maria Christina
- Cossee, Mireille
- Imbert-Bouteille, Marion
- von Pein, Harald
- Haliloglu, Göknur
- Topaloglu, Haluk
- Altmüller, Janine
- Nürnberg, Peter
- Thiele, Holger
- Heller, Raoul
- Cirak, Sebahattin
2020
Volltextzugriff (PDF)
Brain (London, England : 1878), 2019-10, Vol.142 (10), p.2895-2897
2019
Volltextzugriff (PDF)
Mühendislik bilimleri dergisi, 2019-01, Vol.25 (9), p.1071-1079
2019
Volltextzugriff (PDF)
Neurology. Genetics, 2018-02, Vol.4 (1), p.e209-e209
- Mendoza-Ferreira, Natalia
- Coutelier, Marie
- Janzen, Eva
- Hosseinibarkooie, Seyyedmohsen
- Löhr, Heiko
- Schneider, Svenja
- Milbradt, Janine
- Karakaya, Mert
- Riessland, Markus
- Pichlo, Christian
- Torres-Benito, Laura
- Singleton, Andrew
- Zuchner, Stephan
- Brice, Alexis
- Durr, Alexandra
- Hammerschmidt, Matthias
- Stevanin, Giovanni
- Wirth, Brunhilde
2018
Volltextzugriff (PDF)
Turkish journal of pediatrics, 2024-05, Vol.66 (3), p.275-286
2024
Volltextzugriff (PDF)
Progress in neuro-psychopharmacology & biological psychiatry, 2021-06, Vol.108, p.110172-110172, Article 110172
2021
Volltextzugriff (PDF)
2022
Volltextzugriff (PDF)
Journal of proteome research, 2023-09, Vol.22 (9), p.3081-3095
2023
Volltextzugriff (PDF)
European journal of medical genetics, 2021-02, Vol.64 (2), p.104134-104134, Article 104134
2021
Volltextzugriff (PDF)
Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600
- Pagnamenta, Alistair T
- Kaiyrzhanov, Rauan
- Zou, Yaqun
- Da'as, Sahar I
- Maroofian, Reza
- Donkervoort, Sandra
- Dominik, Natalia
- Lauffer, Marlen
- Ferla, Matteo P
- Orioli, Andrea
- Giess, Adam
- Tucci, Arianna
- Beetz, Christian
- Sedghi, Maryam
- Ansari, Behnaz
- Barresi, Rita
- Basiri, Keivan
- Cortese, Andrea
- Elgar, Greg
- Fernandez-Garcia, Miguel A
- Yip, Janice
- Foley, A Reghan
- Gutowski, Nicholas
- Jungbluth, Heinz
- Lassche, Saskia
- Lavin, Tim
- Marcelis, Carlo
- Marks, Peter
- Marini-Bettolo, Chiara
- Medne, Livija
- Moslemi, Ali-Reza
- Sarkozy, Anna
- Reilly, Mary M
- Muntoni, Francesco
- Millan, Francisca
- Muraresku, Colleen C
- Need, Anna C
- Nemeth, Andrea H
- Neuhaus, Sarah B
- Norwood, Fiona
- O'Donnell, Marie
- O'Driscoll, Mary
- Rankin, Julia
- Yum, Sabrina W
- Zolkipli-Cunningham, Zarazuela
- Brusius, Isabell
- Wunderlich, Gilbert
- Karakaya, Mert
- Wirth, Brunhilde
- Fakhro, Khalid A
- Tajsharghi, Homa
- Bönnemann, Carsten G
- Taylor, Jenny C
- Houlden, Henry
2021
Volltextzugriff (PDF)
Human mutation, 2021-04, Vol.42 (4), p.460-472
2021
Volltextzugriff (PDF)
Human mutation, 2018-09, Vol.39 (9), p.1284-1298
- Karakaya, Mert
- Storbeck, Markus
- Strathmann, Eike A.
- Delle Vedove, Andrea
- Hölker, Irmgard
- Altmueller, Janine
- Naghiyeva, Leyla
- Schmitz‐Steinkrüger, Lea
- Vezyroglou, Katharina
- Motameny, Susanne
- Alawbathani, Salem
- Thiele, Holger
- Polat, Ayse Ipek
- Okur, Derya
- Boostani, Reza
- Karimiani, Ehsan Ghayoor
- Wunderlich, Gilbert
- Ardicli, Didem
- Topaloglu, Haluk
- Kirschner, Janbernd
- Schrank, Bertold
- Maroofian, Reza
- Magnusson, Olafur
- Yis, Uluc
- Nürnberg, Peter
- Heller, Raoul
- Wirth, Brunhilde
2018
Volltextzugriff (PDF)
Genetics in medicine, 2024-06, Vol.26 (6), p.101117, Article 101117
- Armirola-Ricaurte, Camila
- Zonnekein, Noortje
- Koutsis, Georgios
- Amor-Barris, Silvia
- Pelayo-Negro, Ana Lara
- Atkinson, Derek
- Efthymiou, Stephanie
- Turchetti, Valentina
- Dinopoulos, Argyris
- Garcia, Antonio
- Karakaya, Mert
- Moris, German
- Polat, Ayşe Ipek
- Yiş, Uluç
- Espinos, Carmen
- Van de Vondel, Liedewei
- De Vriendt, Els
- Karadima, Georgia
- Wirth, Brunhilde
- Hanna, Michael
- Houlden, Henry
- Berciano, Jose
- Jordanova, Albena
2024
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- Free E-Journal (出版社公開部分のみ）
- Ingenta
- MEDLINE
- Journals@Ovid
- Elsevier ScienceDirect Journals Collection
- SpringerLink_现刊
- Wiley Online Library Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Wiley Online Library
- NUS Single-Journal Subscriptions
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Oxford University Press Journals Current
- Oxford Journals 2020 Medicine
- IngentaConnect Journals
- Nature
- Ebook Central Perpetual and DDA
- Taylor & Francis Online
- eBooks on EBSCOhost
- IEEE Xplore
- Taylor & Francis Journals Auto-Holdings Collection
Zeitschrift / Serie
- Brain
- American Journal Of Human Genetics
- Genetics In Medicine
- Asian Pacific Journal Of Cancer Prevention : Apjcp
- Neuromuscular Disorders
- Neuromuscular Disorders : Nmd
- Archives Of Endocrinology And Metabolism
- Cold Spring Harbor Molecular Case Studies
- Diabetes Research And Clinical Practice
- Environmental Science And Pollution Research International
Neu hinzugefügt