Sortiert nach
Einfacher Volltextzugriff von (fast) überall
Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Human molecular genetics, 2012-07, Vol.21 (13), p.3001-3012
2012
Volltextzugriff (PDF)
JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1870
- Yang, Yaping
- Muzny, Donna M
- Xia, Fan
- Niu, Zhiyv
- Person, Richard
- Ding, Yan
- Ward, Patricia
- Braxton, Alicia
- Wang, Min
- Buhay, Christian
- Veeraraghavan, Narayanan
- Hawes, Alicia
- Chiang, Theodore
- Leduc, Magalie
- Beuten, Joke
- Zhang, Jing
- He, Weimin
- Scull, Jennifer
- Willis, Alecia
- Landsverk, Megan
- Craigen, William J
- Bekheirnia, Mir Reza
- Stray-Pedersen, Asbjorg
- Liu, Pengfei
- Wen, Shu
- Alcaraz, Wendy
- Cui, Hong
- Walkiewicz, Magdalena
- Reid, Jeffrey
- Bainbridge, Matthew
- Patel, Ankita
- Boerwinkle, Eric
- Beaudet, Arthur L
- Lupski, James R
- Plon, Sharon E
- Gibbs, Richard A
- Eng, Christine M
2014
Volltextzugriff (PDF)
PLoS genetics, 2013-12, Vol.9 (12), p.e1004039-e1004039
2013
Volltextzugriff (PDF)
Genetics in medicine, 2016-07, Vol.18 (7), p.678-685
- Posey, Jennifer E.
- Rosenfeld, Jill A.
- James, Regis A.
- Bainbridge, Matthew
- Niu, Zhiyv
- Wang, Xia
- Dhar, Shweta
- Wiszniewski, Wojciech
- Akdemir, Zeynep H.C.
- Gambin, Tomasz
- Xia, Fan
- Person, Richard E.
- Walkiewicz, Magdalena
- Shaw, Chad A.
- Sutton, V. Reid
- Beaudet, Arthur L.
- Muzny, Donna
- Eng, Christine M.
- Yang, Yaping
- Gibbs, Richard A.
- Lupski, James R.
- Boerwinkle, Eric
- Plon, Sharon E.
2016
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1196-1201
2010
Volltextzugriff (PDF)
American journal of human genetics, 2014-11, Vol.95 (5), p.579-583
- Lalani, Seema R.
- Zhang, Jing
- Schaaf, Christian P.
- Brown, Chester W.
- Magoulas, Pilar
- Tsai, Anne Chun-Hui
- El-Gharbawy, Areeg
- Wierenga, Klaas J.
- Bartholomew, Dennis
- Fong, Chin-To
- Barbaro-Dieber, Tina
- Kukolich, Mary K.
- Burrage, Lindsay C.
- Austin, Elise
- Keller, Kory
- Pastore, Matthew
- Fernandez, Fabio
- Lotze, Timothy
- Wilfong, Angus
- Purcarin, Gabriela
- Zhu, Wenmiao
- Craigen, William J.
- McGuire, Marianne
- Jain, Mahim
- Cooney, Erin
- Azamian, Mahshid
- Bainbridge, Matthew N.
- Muzny, Donna M.
- Boerwinkle, Eric
- Person, Richard E.
- Niu, Zhiyv
- Eng, Christine M.
- Lupski, James R.
- Gibbs, Richard A.
- Beaudet, Arthur L.
- Yang, Yaping
- Wang, Meng C.
- Xia, Fan
2014
Volltextzugriff (PDF)
Genome research, 2013-01, Vol.23 (1), p.23-33
- Szafranski, Przemyslaw
- Dharmadhikari, Avinash V
- Brosens, Erwin
- Gurha, Priyatansh
- Kolodziejska, Katarzyna E
- Zhishuo, Ou
- Dittwald, Piotr
- Majewski, Tadeusz
- Mohan, K Naga
- Chen, Bo
- Person, Richard E
- Tibboel, Dick
- de Klein, Annelies
- Pinner, Jason
- Chopra, Maya
- Malcolm, Girvan
- Peters, Gregory
- Arbuckle, Susan
- Guiang, 3rd, Sixto F
- Hustead, Virginia A
- Jessurun, Jose
- Hirsch, Russel
- Witte, David P
- Maystadt, Isabelle
- Sebire, Neil
- Fisher, Richard
- Langston, Claire
- Sen, Partha
- Stankiewicz, Paweł
2013
Volltextzugriff (PDF)
Nature genetics, 2008-06, Vol.40 (6), p.719-721
2008
Volltextzugriff (PDF)
Nature genetics, 2021-07, Vol.53 (7), p.1006-1021
- Cousin, Margot A.
- Creighton, Blake A.
- Breau, Keith A.
- Spillmann, Rebecca C.
- Torti, Erin
- Dontu, Sruthi
- Tripathi, Swarnendu
- Ajit, Deepa
- Edwards, Reginald J.
- Afriyie, Simone
- Bay, Julia C.
- Harper, Kathryn M.
- Beltran, Alvaro A.
- Munoz, Lorena J.
- Falcon Rodriguez, Liset
- Stankewich, Michael C.
- Person, Richard E.
- Si, Yue
- Normand, Elizabeth A.
- Blevins, Amy
- May, Alison S.
- Bier, Louise
- Aggarwal, Vimla
- Mancini, Grazia M. S.
- van Slegtenhorst, Marjon A.
- Cremer, Kirsten
- Becker, Jessica
- Engels, Hartmut
- Aretz, Stefan
- MacKenzie, Jennifer J.
- Brilstra, Eva
- van Gassen, Koen L. I.
- van Jaarsveld, Richard H.
- Oegema, Renske
- Parsons, Gretchen M.
- Mark, Paul
- Helbig, Ingo
- McKeown, Sarah E.
- Stratton, Robert
- Cogne, Benjamin
- Isidor, Bertrand
- Cacheiro, Pilar
- Smedley, Damian
- Firth, Helen V.
- Bierhals, Tatjana
- Kloth, Katja
- Weiss, Deike
- Fairley, Cecilia
- Shieh, Joseph T.
- Kritzer, Amy
- Jayakar, Parul
- Kurtz-Nelson, Evangeline
- Bernier, Raphael A.
- Wang, Tianyun
- Eichler, Evan E.
- van de Laar, Ingrid M. B. H.
- McConkie-Rosell, Allyn
- McDonald, Marie T.
- Kemppainen, Jennifer
- Lanpher, Brendan C.
- Schultz-Rogers, Laura E.
- Gunderson, Lauren B.
- Pichurin, Pavel N.
- Yoon, Grace
- Zech, Michael
- Jech, Robert
- Winkelmann, Juliane
- Beltran, Adriana S.
- Zimmermann, Michael T.
- Temple, Brenda
- Moy, Sheryl S.
- Klee, Eric W.
- Tan, Queenie K.-G.
- Lorenzo, Damaris N.
2021
Volltextzugriff (PDF)
Brain (London, England : 1878), 2021-08, Vol.144 (7), p.2092-2106
- El Ghaleb, Yousra
- Schneeberger, Pauline E
- Fernández-Quintero, Monica L
- Geisler, Stefanie M
- Pelizzari, Simone
- Polstra, Abeltje M
- van Hagen, Johanna M
- Denecke, Jonas
- Campiglio, Marta
- Liedl, Klaus R
- Stevens, Cathy A
- Person, Richard E
- Rentas, Stefan
- Marsh, Eric D
- Conlin, Laura K
- Tuluc, Petronel
- Kutsche, Kerstin
- Flucher, Bernhard E
2021
Volltextzugriff (PDF)
American journal of human genetics, 2017-07, Vol.101 (1), p.65-74
- Lehman, Anna
- Thouta, Samrat
- Mancini, Grazia M.S.
- Naidu, Sakkubai
- van Slegtenhorst, Marjon
- McWalter, Kirsty
- Person, Richard
- Mwenifumbo, Jill
- Salvarinova, Ramona
- Adam, Shelin
- du Souich, Christèle
- Elliott, Alison M.
- Nelson, Tanya N.
- van Karnebeek, Clara
- Friedman, Jan M.
- Boelman, Cyrus
- Bolbocean, Corneliu
- Buerki, Sarah E.
- Candido, Tara
- Eydoux, Patrice
- Evans, Daniel M.
- Gibson, William
- Horvath, Gabriella
- Huh, Linda
- Sinclair, Graham
- Tarling, Tamsin
- Toyota, Eric B.
- Townsend, Katelin N.
- Van Allen, Margot I.
- Vercauteren, Suzanne
- Guella, Ilaria
- McKenzie, Marna B.
- Datta, Anita
- Connolly, Mary B.
- Kalkhoran, Somayeh Mojard
- Poburko, Damon
- Farrer, Matthew J.
- Demos, Michelle
- Desai, Sonal
- Claydon, Thomas
2017
Volltextzugriff (PDF)
Lancet neurology, 2020-11, Vol.19 (11), p.908-918
- Zech, Michael
- Jech, Robert
- Boesch, Sylvia
- Škorvánek, Matej
- Weber, Sandrina
- Wagner, Matias
- Zhao, Chen
- Jochim, Angela
- Necpál, Ján
- Vill, Katharina
- Stoklosa, Malgorzata
- Krenn, Martin
- Grunwald, Stephan
- Bock-Bierbaum, Tobias
- Fečíková, Anna
- Roth, Jan
- Příhodová, Iva
- Adamovičová, Miriam
- Ulmanová, Olga
- Bechyně, Karel
- Danhofer, Pavlína
- Veselý, Branislav
- Haň, Vladimír
- Gdovinová, Zuzana
- Mantel, Tobias
- Meindl, Tobias
- Sitzberger, Alexandra
- Schröder, Sebastian
- Blaschek, Astrid
- Roser, Timo
- Bonfert, Michaela V
- Haberlandt, Edda
- Plecko, Barbara
- Berweck, Steffen
- Herberhold, Thomas
- Langguth, Berthold
- Švantnerová, Jana
- Minár, Michal
- Ramos-Rivera, Gonzalo Alonso
- Wojcik, Monica H
- Pajusalu, Sander
- Õunap, Katrin
- Pölsler, Laura
- Milenkovic, Ivan
- Laccone, Franco
- Pilshofer, Veronika
- Colombo, Roberto
- Patzer, Steffi
- Iuso, Arcangela
- Vera, Julia
- Troncoso, Monica
- Fang, Fang
- Wilbert, Friederike
- Eckenweiler, Matthias
- Graf, Elisabeth
- Westphal, Dominik S
- Riedhammer, Korbinian M
- Alhaddad, Bader
- Berutti, Riccardo
- Strom, Tim M
- Hecht, Martin
- Baumann, Matthias
- Wolf, Marc
- Telegrafi, Aida
- Person, Richard E
- Zamora, Francisca Millan
- Henderson, Lindsay B
- Musacchio, Thomas
- Volkmann, Jens
- Szuto, Anna
- Becker, Jessica
- Cremer, Kirsten
- Sycha, Thomas
- Zimprich, Fritz
- Kraus, Verena
- Makowski, Christine
- Gonzalez-Alegre, Pedro
- Bardakjian, Tanya M
- Ozelius, Laurie J
- Vetro, Annalisa
- Guerrini, Renzo
- Maier, Esther
- Borggraefe, Ingo
- Kuster, Alice
- Hackenberg, Annette
- Steinfeld, Robert
- Assmann, Birgit
- Staufner, Christian
- Opladen, Thomas
- Růžička, Evžen
- Cohn, Ronald D
- Dyment, David
- Chung, Wendy K
- Engels, Hartmut
- Ploski, Rafal
- Daumke, Oliver
- Haslinger, Bernhard
- Mall, Volker
- Oexle, Konrad
- Winkelmann, Juliane
2020
Volltextzugriff (PDF)
American journal of human genetics, 2020-04, Vol.106 (4), p.484-495
- Nguyen, Thi Tuyet Mai
- Murakami, Yoshiko
- Mobilio, Sabrina
- Niceta, Marcello
- Zampino, Giuseppe
- Philippe, Christophe
- Moutton, Sébastien
- Zaki, Maha S.
- James, Kiely N.
- Musaev, Damir
- Mu, Weiyi
- Baranano, Kristin
- Nance, Jessica R.
- Rosenfeld, Jill A.
- Braverman, Nancy
- Ciolfi, Andrea
- Millan, Francisca
- Person, Richard E.
- Bruel, Ange-Line
- Thauvin-Robinet, Christel
- Ververi, Athina
- DeVile, Catherine
- Male, Alison
- Efthymiou, Stephanie
- Maroofian, Reza
- Houlden, Henry
- Maqbool, Shazia
- Rahman, Fatima
- Baratang, Nissan V.
- Rousseau, Justine
- St-Denis, Anik
- Elrick, Matthew J.
- Anselm, Irina
- Rodan, Lance H.
- Tartaglia, Marco
- Gleeson, Joseph
- Kinoshita, Taroh
- Campeau, Philippe M.
2020
Volltextzugriff (PDF)
Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807
- Fountain, Michael D.
- Oleson, David S.
- Rech, Megan E.
- Segebrecht, Lara
- Hunter, Jill V.
- McCarthy, John M.
- Lupo, Philip J.
- Holtgrewe, Manuel
- Moran, Rocio
- Rosenfeld, Jill A.
- Isidor, Bertrand
- Le Caignec, Cédric
- Saenz, Margarita S.
- Pedersen, Robert C.
- Morgan, Thomas M.
- Pfotenhauer, Jean P.
- Xia, Fan
- Bi, Weimin
- Kang, Sung-Hae L.
- Patel, Ankita
- Krantz, Ian D.
- Raible, Sarah E.
- Smith, Wendy
- Cristian, Ingrid
- Torti, Erin
- Juusola, Jane
- Millan, Francisca
- Wentzensen, Ingrid M.
- Person, Richard E.
- Küry, Sébastien
- Bézieau, Stéphane
- Uguen, Kévin
- Férec, Claude
- Munnich, Arnold
- van Haelst, Mieke
- Lichtenbelt, Klaske D.
- van Gassen, Koen
- Hagelstrom, Tanner
- Chawla, Aditi
- Perry, Denise L.
- Taft, Ryan J.
- Jones, Marilyn
- Masser-Frye, Diane
- Dyment, David
- Venkateswaran, Sunita
- Li, Chumei
- Escobar, Luis F.
- Horn, Denise
- Spillmann, Rebecca C.
- Peña, Loren
- Wierzba, Jolanta
- Strom, Tim M.
- Parenti, Ilaria
- Kaiser, Frank J.
- Ehmke, Nadja
- Schaaf, Christian P.
2019
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.76-87
2020
Volltextzugriff (PDF)
Nature genetics, 2003-07, Vol.34 (3), p.308-312
2003
Volltextzugriff (PDF)
Genome medicine, 2016-01, Vol.8 (1), p.3, Article 3
- White, Janson
- Beck, Christine R
- Harel, Tamar
- Posey, Jennifer E
- Jhangiani, Shalini N
- Tang, Sha
- Farwell, Kelly D
- Powis, Zöe
- Mendelsohn, Nancy J
- Baker, Janice A
- Pollack, Lynda
- Mason, Kati J
- Wierenga, Klaas J
- Arrington, Daniel K
- Hall, Melissa
- Psychogios, Apostolos
- Fairbrother, Laura
- Walkiewicz, Magdalena
- Person, Richard E
- Niu, Zhiyv
- Zhang, Jing
- Rosenfeld, Jill A
- Muzny, Donna M
- Eng, Christine
- Beaudet, Arthur L
- Lupski, James R
- Boerwinkle, Eric
- Gibbs, Richard A
- Yang, Yaping
- Xia, Fan
- Sutton, V Reid
2016
Volltextzugriff (PDF)
Human mutation, 2010-07, Vol.31 (7), p.840-850
2010
Volltextzugriff (PDF)
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
- Celestino-Soper, Patrícia B. S
- Violante, Sara
- Crawford, Emily L
- Luo, Rui
- Lionel, Anath C
- Delaby, Elsa
- Cai, Guiqing
- Sadikovic, Bekim
- Lee, Kwanghyuk
- Lo, Charlene
- Gao, Kun
- Person, Richard E
- Moss, Timothy J
- German, Jennifer R
- Huang, Ni
- Shinawi, Marwan
- Treadwell-Deering, Diane
- Szatmari, Peter
- Roberts, Wendy
- Fernandez, Bridget
- Schroer, Richard J
- Stevenson, Roger E
- Buxbaum, Joseph D
- Betancur, Catalina
- Scherer, Stephen W
- Sanders, Stephan J
- Geschwind, Daniel H
- Sutcliffe, James S
- Hurles, Matthew E
- Wanders, Ronald J. A
- Shaw, Chad A
- Leal, Suzanne M
- Cook, Edwin H. Jr
- Goin-Kochel, Robin P
- Vaz, Frédéric M
- Beaudet, Arthur L
2012
Volltextzugriff (PDF)
Nature genetics, 1999-12, Vol.23 (4), p.433-436
1999
Volltextzugriff (PDF)
Molecular and Cellular Biology, 2007-10, Vol.27 (19), p.6889-6902
2007
Volltextzugriff (PDF)
Genome Research, 2009-08, Vol.19 (8), p.1374-1383
2009
Volltextzugriff (PDF)
Genetics in medicine, 2021-02, Vol.23 (2), p.384-395
- Brunet, Theresa
- McWalter, Kirsty
- Mayerhanser, Katharina
- Anbouba, Grace M.
- Armstrong-Javors, Amy
- Bader, Ingrid
- Baugh, Evan
- Begtrup, Amber
- Bupp, Caleb P.
- Callewaert, Bert L.
- Cereda, Anna
- Cousin, Margot A.
- Del Rey Jimenez, Juan C.
- Demmer, Laurie
- Dsouza, Nikita R.
- Fleischer, Nicole
- Gavrilova, Ralitza H.
- Ghate, Sumedha
- Graf, Elisabeth
- Green, Andrew
- Green, Sarah R.
- Iascone, Maria
- Kdissa, Ameni
- Klee, Dirk
- Klee, Eric W.
- Lancaster, Emily
- Lindstrom, Kristin
- Mayr, Johannes A.
- McEntagart, Meriel
- Meeks, Naomi J. L.
- Mittag, Dana
- Moore, Harrison
- Olsen, Anne K.
- Ortiz, Damara
- Parsons, Gretchen
- Pena, Loren D. M.
- Person, Richard E.
- Punj, Sumit
- Ramos-Rivera, Gonzalo Alonso
- Sacoto, Maria J. Guillen
- Bradley Schaefer, G.
- Schnur, Rhonda E.
- Scott, Tiana M.
- Scott, Daryl A.
- Serbinski, Carolyn R.
- Shashi, Vandana
- Siu, Victoria M.
- Stadheim, Barbro Fossøy
- Sullivan, Jennifer A.
- Švantnerová, Jana
- Velsher, Lea
- Wargowski, David S.
- Wentzensen, Ingrid M.
- Wieczorek, Dagmar
- Winkelmann, Juliane
- Yap, Patrick
- Zech, Michael
- Zimmermann, Michael T.
- Meitinger, Thomas
- Distelmaier, Felix
- Wagner, Matias
2021
Volltextzugriff (PDF)
Molecular and Cellular Biology, 2009-08, Vol.29 (16), p.4394-4405
2009
Volltextzugriff (PDF)
Nature genetics, 2003-09, Vol.35 (1), p.90-96
2003
Volltextzugriff (PDF)
Aktive Filter
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Life Sciences & Biomedicine
- Humans
- Female
- Male
- Genetics & Heredity
- Animals
- Biological And Medical Sciences
- Adult
- Medical Sciences
- Child, Preschool
- Middle Aged
- Child
- Adolescent
- Aged
- Phenotype
- Mutation
- Neurodevelopmental Disorders - Genetics
- Biochemistry & Molecular Biology
- Fundamental And Applied Biological Sciences. Psychology
Kollektion
- EZB Electronic Journals Library
- Journals@Ovid Complete
- Ingenta
- Publisher or Other Site
- Elsevier ScienceDirect Journals Complete
- Wiley Online Library Journals Frontfile Complete
- Nature_系列刊
- Wiley Online Library Full Collection 2018
- IngentaConnect Journals
- Springer Nature - Complete Springer Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Oxford University Press Journals Current
- Oxford Journals 2020 Medicine
- Nexis Uni
- Jstor Complete Legacy
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Taylor & Francis Journals Auto-Holdings Collection
- SAGE Journals
- Taylor & Francis