Sortiert nach
American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.582-590
2019
Link zum Volltext
American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.156-172
2014
Link zum Volltext
Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628
2015
Link zum Volltext
Dialogues in clinical neuroscience, 2018-12, Vol.20 (4), p.267-282
2018
Link zum Volltext
Advances in therapy, 2022-09, Vol.39 (9), p.3871-3880
2022
Link zum Volltext
American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1473-1488
2017
Link zum Volltext
Human genetics, 2014-08, Vol.133 (8), p.1023-1039
2014
Link zum Volltext
Lancet neurology, 2015-12, Vol.14 (12), p.1182-1195
- Mirzaa, Ghayda M, Dr
- Conti, Valerio, PhD
- Timms, Andrew E, PhD
- Smyser, Christopher D, MD
- Ahmed, Sarah, MD
- Carter, Melissa, MD
- Barnett, Sarah, MS
- Hufnagel, Robert B, MD
- Goldstein, Amy, MD
- Narumi-Kishimoto, Yoko, MD
- Olds, Carissa, MSc
- Collins, Sarah, MS
- Johnston, Kathreen, MD
- Deleuze, Jean-François, PhD
- Nitschké, Patrick, PhD
- Friend, Kathryn, PhD
- Harris, Catharine, MD
- Goetsch, Allison, MS
- Martin, Beth, BS
- Boyle, Evan August, BS
- Parrini, Elena, MD
- Mei, Davide, MSLT
- Tattini, Lorenzo, PhD
- Slavotinek, Anne, Prof
- Blair, Ed, MRCP
- Barnett, Christopher, MBBS
- Shendure, Jay, Prof
- Chelly, Jamel, Prof
- Dobyns, William B, Prof
- Guerrini, Renzo, Prof
2015
Link zum Volltext
Developmental cell, 2019-12, Vol.51 (6), p.713-729.e6
2019
Link zum Volltext
Nature reviews. Neurology, 2020-11, Vol.16 (11), p.618-635
- Oegema, Renske
- Barakat, Tahsin Stefan
- Wilke, Martina
- Stouffs, Katrien
- Amrom, Dina
- Aronica, Eleonora
- Bahi-Buisson, Nadia
- Conti, Valerio
- Fry, Andrew E
- Geis, Tobias
- Andres, David Gomez
- Parrini, Elena
- Pogledic, Ivana
- Said, Edith
- Soler, Doriette
- Valor, Luis M
- Zaki, Maha S
- Mirzaa, Ghayda
- Dobyns, William B
- Reiner, Orly
- Guerrini, Renzo
- Pilz, Daniela T
- Hehr, Ute
- Leventer, Richard J
- Jansen, Anna C
- Mancini, Grazia M S
- Di Donato, Nataliya
2020
Link zum Volltext
Neuron (Cambridge, Mass.), 2020-05, Vol.106 (3), p.404-420.e8
- Lennox, Ashley L.
- Hoye, Mariah L.
- Jiang, Ruiji
- Johnson-Kerner, Bethany L.
- Suit, Lindsey A.
- Venkataramanan, Srivats
- Sheehan, Charles J.
- Alsina, Fernando C.
- Fregeau, Brieana
- Aldinger, Kimberly A.
- Moey, Ching
- Lobach, Iryna
- Afenjar, Alexandra
- Babovic-Vuksanovic, Dusica
- Bézieau, Stéphane
- Blackburn, Patrick R.
- Bunt, Jens
- Burglen, Lydie
- Campeau, Philippe M.
- Charles, Perrine
- Chung, Brian H.Y.
- Cogné, Benjamin
- Curry, Cynthia
- D’Agostino, Maria Daniela
- Di Donato, Nataliya
- Faivre, Laurence
- Héron, Delphine
- Innes, A. Micheil
- Isidor, Bertrand
- Keren, Boris
- Kimball, Amy
- Klee, Eric W.
- Kuentz, Paul
- Küry, Sébastien
- Martin-Coignard, Dominique
- Mirzaa, Ghayda
- Mignot, Cyril
- Miyake, Noriko
- Matsumoto, Naomichi
- Fujita, Atsushi
- Nava, Caroline
- Nizon, Mathilde
- Rodriguez, Diana
- Blok, Lot Snijders
- Thauvin-Robinet, Christel
- Thevenon, Julien
- Vincent, Marie
- Ziegler, Alban
- Dobyns, William
- Richards, Linda J.
- Barkovich, A. James
- Floor, Stephen N.
- Silver, Debra L.
- Sherr, Elliott H.
2020
Link zum Volltext
Journal of medical genetics, 2023-05, Vol.60 (5), p.511
2023
Link zum Volltext
Cell, 2014-09, Vol.159 (1), p.200-214
- Yamamoto, Shinya
- Jaiswal, Manish
- Charng, Wu-Lin
- Gambin, Tomasz
- Karaca, Ender
- Mirzaa, Ghayda
- Wiszniewski, Wojciech
- Sandoval, Hector
- Haelterman, Nele A.
- Xiong, Bo
- Zhang, Ke
- Bayat, Vafa
- David, Gabriela
- Li, Tongchao
- Chen, Kuchuan
- Gala, Upasana
- Harel, Tamar
- Pehlivan, Davut
- Penney, Samantha
- Vissers, Lisenka E.L.M.
- de Ligt, Joep
- Jhangiani, Shalini N.
- Xie, Yajing
- Tsang, Stephen H.
- Parman, Yesim
- Sivaci, Merve
- Battaloglu, Esra
- Muzny, Donna
- Wan, Ying-Wooi
- Liu, Zhandong
- Lin-Moore, Alexander T.
- Clark, Robin D.
- Curry, Cynthia J.
- Link, Nichole
- Schulze, Karen L.
- Boerwinkle, Eric
- Dobyns, William B.
- Allikmets, Rando
- Gibbs, Richard A.
- Chen, Rui
- Lupski, James R.
- Wangler, Michael F.
- Bellen, Hugo J.
2014
Link zum Volltext
Nature genetics, 2014-05, Vol.46 (5), p.510-515
- Mirzaa, Ghayda
- Parry, David A
- Fry, Andrew E
- Giamanco, Kristin A
- Schwartzentruber, Jeremy
- Vanstone, Megan
- Logan, Clare V
- Roberts, Nicola
- Johnson, Colin A
- Singh, Shawn
- Kholmanskikh, Stanislav S
- Adams, Carissa
- Hodge, Rebecca D
- Hevner, Robert F
- Bonthron, David T
- Braun, Kees P J
- Faivre, Laurence
- Rivière, Jean-Baptiste
- St-Onge, Judith
- Gripp, Karen W
- Mancini, Grazia Ms
- Pang, Ki
- Sweeney, Elizabeth
- van Esch, Hilde
- Verbeek, Nienke
- Wieczorek, Dagmar
- Steinraths, Michelle
- Majewski, Jacek
- Boycot, Kym M
- Pilz, Daniela T
- Ross, M Elizabeth
- Dobyns, William B
- Sheridan, Eamonn G
2014
Link zum Volltext
Genetics in medicine, 2018-11, Vol.20 (11), p.1354-1364
- Di Donato, Nataliya
- Timms, Andrew E
- Aldinger, Kimberly A
- Mirzaa, Ghayda M
- Bennett, James T
- Collins, Sarah
- Olds, Carissa
- Mei, Davide
- Chiari, Sara
- Carvill, Gemma
- Myers, Candace T
- Rivière, Jean-Baptiste
- Zaki, Maha S
- Gleeson, Joseph G
- Rump, Andreas
- Conti, Valerio
- Parrini, Elena
- Ross, M Elizabeth
- Ledbetter, David H
- Guerrini, Renzo
- Dobyns, William B
2018
Link zum Volltext
American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3127-3131
2017
Link zum Volltext
Journal of the American Academy of Dermatology, 2022-07, Vol.87 (1), p.162-164
2022
Link zum Volltext
Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622
- Alcantara, Diana
- Timms, Andrew E
- Gripp, Karen
- Baker, Laura
- Park, Kaylee
- Collins, Sarah
- Cheng, Chi
- Stewart, Fiona
- Mehta, Sarju G
- Saggar, Anand
- Sztriha, László
- Zombor, Melinda
- Caluseriu, Oana
- Mesterman, Ronit
- Van Allen, Margot I
- Jacquinet, Adeline
- Ygberg, Sofia
- Bernstein, Jonathan A
- Wenger, Aaron M
- Guturu, Harendra
- Bejerano, Gill
- Gomez-Ospina, Natalia
- Lehman, Anna
- Alfei, Enrico
- Pantaleoni, Chiara
- Conti, Valerio
- Guerrini, Renzo
- Moog, Ute
- Graham, Jr, John M
- Hevner, Robert
- Dobyns, William B
- O'Driscoll, Mark
- Mirzaa, Ghayda M
2017
Link zum Volltext
Brain (London, England : 1878), 2022-04, Vol.145 (3), p.925-938
- Pirozzi, Filomena
- Berkseth, Matthew
- Shear, Rylee
- Gonzalez, Lorenzo
- Timms, Andrew E
- Sulc, Josef
- Pao, Emily
- Oyama, Nora
- Forzano, Francesca
- Conti, Valerio
- Guerrini, Renzo
- Doherty, Emily S
- Saitta, Sulagna C
- Lockwood, Christina M
- Pritchard, Colin C
- Dobyns, William B
- Novotny, Edward
- Wright, Jason N N
- Saneto, Russell P
- Friedman, Seth
- Hauptman, Jason
- Ojemann, Jeffrey
- Kapur, Raj P
- Mirzaa, Ghayda M
2022
Link zum Volltext
American journal of human genetics, 2016-11, Vol.99 (5), p.1117-1129
- Di Donato, Nataliya
- Jean, Ying Y.
- Maga, A. Murat
- Krewson, Briana D.
- Shupp, Alison B.
- Avrutsky, Maria I.
- Roy, Achira
- Collins, Sarah
- Olds, Carissa
- Willert, Rebecca A.
- Czaja, Agnieszka M.
- Johnson, Rachel
- Stover, Jessi A.
- Gottlieb, Steven
- Bartholdi, Deborah
- Rauch, Anita
- Goldstein, Amy
- Boyd-Kyle, Victoria
- Aldinger, Kimberly A.
- Mirzaa, Ghayda M.
- Nissen, Anke
- Brigatti, Karlla W.
- Puffenberger, Erik G.
- Millen, Kathleen J.
- Strauss, Kevin A.
- Dobyns, William B.
- Troy, Carol M.
- Jinks, Robert N.
2016
Link zum Volltext
American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.269-291
2012
Link zum Volltext
Genetics in medicine, 2021-01, Vol.23 (1), p.123-130
2021
Link zum Volltext
Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3351-3359
- Horn, Susanne
- Au, Margaret
- Basel-Salmon, Lina
- Bayrak-Toydemir, Pinar
- Chapin, Alexander
- Cohen, Lior
- Elting, Mariet W
- Graham, John M
- Gonzaga-Jauregui, Claudia
- Konen, Osnat
- Holzer, Max
- Lemke, Johannes
- Miller, Christine E
- Rey, Linda K
- Wolf, Nicole I
- Weiss, Marjan M
- Waisfisz, Quinten
- Mirzaa, Ghayda M
- Wieczorek, Dagmar
- Sticht, Heinrich
- Abou Jamra, Rami
2019
Link zum Volltext
Nature communications, 2020-11, Vol.11 (1), p.5797-5797, Article 5797
- Lessel, Davor
- Zeitler, Daniela M.
- Reijnders, Margot R. F.
- Kazantsev, Andriy
- Hassani Nia, Fatemeh
- Bartholomäus, Alexander
- Martens, Victoria
- Bruckmann, Astrid
- Graus, Veronika
- McConkie-Rosell, Allyn
- McDonald, Marie
- Lozic, Bernarda
- Tan, Ee-Shien
- Gerkes, Erica
- Johannsen, Jessika
- Denecke, Jonas
- Telegrafi, Aida
- Zonneveld-Huijssoon, Evelien
- Lemmink, Henny H.
- Cham, Breana W. M.
- Kovacevic, Tanja
- Ramsdell, Linda
- Foss, Kimberly
- Le Duc, Diana
- Mitter, Diana
- Syrbe, Steffen
- Merkenschlager, Andreas
- Sinnema, Margje
- Panis, Bianca
- Lazier, Joanna
- Osmond, Matthew
- Hartley, Taila
- Mortreux, Jeremie
- Busa, Tiffany
- Missirian, Chantal
- Prasun, Pankaj
- Lüttgen, Sabine
- Mannucci, Ilaria
- Lessel, Ivana
- Schob, Claudia
- Kindler, Stefan
- Pappas, John
- Rabin, Rachel
- Willemsen, Marjolein
- Gardeitchik, Thatjana
- Löhner, Katharina
- Rump, Patrick
- Dias, Kerith-Rae
- Evans, Carey-Anne
- Andrews, Peter Ian
- Roscioli, Tony
- Brunner, Han G.
- Chijiwa, Chieko
- Lewis, M. E. Suzanne
- Jamra, Rami Abou
- Dyment, David A.
- Boycott, Kym M.
- Stegmann, Alexander P. A.
- Kubisch, Christian
- Tan, Ene-Choo
- Mirzaa, Ghayda M.
- McWalter, Kirsty
- Kleefstra, Tjitske
- Pfundt, Rolph
- Ignatova, Zoya
- Meister, Gunter
- Kreienkamp, Hans-Jürgen
2020
Link zum Volltext
American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.676-681
2018
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- Journals@Ovid Ovid Full Text
- Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
- Wiley Online Library All Journals
- IngentaConnect
- Wiley Online Library Full Collection 2018
- Springer Online Journals Complete
- ScienceDirect Journals (5 years ago - present)
- Nature Journals Online
- Single Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Oxford Journals Current Collection
- Oxford Journals 2020 Medicine
- IngentaConnect Journals
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Applied Social Sciences Index & Abstracts (ASSIA)
- ScienceDirect eBooks
- Nexis Uni
- BMJ Journals
- BMJ Journals Archiv - DFG Nationallizenzen
- Ebook Central Perpetual and DDA
Zeitschrift / Serie
- American Journal Of Medical Genetics. Part A
- Genetics In Medicine
- American Journal Of Human Genetics
- Brain
- American Journal Of Medical Genetics Part A
- Human Mutation
- Journal Of Genetic Counseling
- American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
- European Journal Of Human Genetics : Ejhg
- Molecular Genetics & Genomic Medicine
Neu hinzugefügt