Sortiert nach
Molecular syndromology, 2016-07, Vol.7 (3), p.122-137
2016
Link zum Volltext
Molecular diagnosis & therapy, 2018-10, Vol.22 (5), p.571-593
2018
Link zum Volltext
The New England journal of medicine, 2012-10, Vol.367 (14), p.1321-1331
- Girirajan, Santhosh
- Rosenfeld, Jill A
- Coe, Bradley P
- Parikh, Sumit
- Friedman, Neil
- Goldstein, Amy
- Filipink, Robyn A
- McConnell, Juliann S
- Angle, Brad
- Meschino, Wendy S
- Nezarati, Marjan M
- Asamoah, Alexander
- Jackson, Kelly E
- Gowans, Gordon C
- Martin, Judith A
- Carmany, Erin P
- Stockton, David W
- Schnur, Rhonda E
- Penney, Lynette S
- Martin, Donna M
- Raskin, Salmo
- Leppig, Kathleen
- Thiese, Heidi
- Smith, Rosemarie
- Aberg, Erika
- Niyazov, Dmitriy M
- Escobar, Luis F
- El-Khechen, Dima
- Johnson, Kisha D
- Lebel, Robert R
- Siefkas, Kiana
- Ball, Susie
- Shur, Natasha
- McGuire, Marianne
- Brasington, Campbell K
- Spence, J. Edward
- Martin, Laura S
- Clericuzio, Carol
- Ballif, Blake C
- Shaffer, Lisa G
- Eichler, Evan E
2012
Link zum Volltext
Brain research, 2005-09, Vol.1057 (1), p.10-16
2005
Link zum Volltext
American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2153-2159
2021
Link zum Volltext
Genetics in medicine, 2019-04, Vol.21 (4), p.887-895
- Kazi, Zoheb B
- Desai, Ankit K
- Troxler, R Bradley
- Kronn, David
- Packman, Seymour
- Sabbadini, Marta
- Rizzo, William B
- Scherer, Katalin
- Abdul-Rahman, Omar
- Tanpaiboon, Pranoot
- Nampoothiri, Sheela
- Gupta, Neerja
- Feigenbaum, Annette
- Niyazov, Dmitriy M
- Sherry, Langston
- Segel, Reeval
- McVie-Wylie, Alison
- Sung, Crystal
- Joseph, Alexandra M
- Richards, Susan
- Kishnani, Priya S
2019
Link zum Volltext
Human genetics, 2012, Vol.131 (1), p.145-156
- Ballif, Blake C.
- Rosenfeld, Jill A.
- Traylor, Ryan
- Theisen, Aaron
- Bader, Patricia I.
- Ladda, Roger L.
- Sell, Susan L.
- Steinraths, Michelle
- Surti, Urvashi
- McGuire, Marianne
- Williams, Shelley
- Farrell, Sandra A.
- Filiano, James
- Schnur, Rhonda E.
- Coffey, Lauren B.
- Tervo, Raymond C.
- Stroud, Tracy
- Marble, Michael
- Netzloff, Michael
- Hanson, Kristen
- Aylsworth, Arthur S.
- Bamforth, J. S.
- Babu, Deepti
- Niyazov, Dmitriy M.
- Ravnan, J. Britt
- Schultz, Roger A.
- Lamb, Allen N.
- Torchia, Beth S.
- Bejjani, Bassem A.
- Shaffer, Lisa G.
2012
Link zum Volltext
American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3187-3190
2013
Link zum Volltext
Neurology. Genetics, 2019-12, Vol.5 (6), p.e369-e369
- Gauquelin, Laurence
- Cayami, Ferdy K
- Sztriha, László
- Yoon, Grace
- Tran, Luan T
- Guerrero, Kether
- Hocke, François
- van Spaendonk, Rosalina M L
- Fung, Eva L
- D'Arrigo, Stefano
- Vasco, Gessica
- Thiffault, Isabelle
- Niyazov, Dmitriy M
- Person, Richard
- Lewis, Kara Stuart
- Wassmer, Evangeline
- Prescott, Trine
- Fallon, Penny
- McEntagart, Meriel
- Rankin, Julia
- Webster, Richard
- Philippi, Heike
- van de Warrenburg, Bart
- Timmann, Dagmar
- Dixit, Abhijit
- Searle, Claire
- Thakur, Nivedita
- Kruer, Michael C
- Sharma, Suvasini
- Vanderver, Adeline
- Tonduti, Davide
- van der Knaap, Marjo S
- Bertini, Enrico
- Goizet, Cyril
- Fribourg, Sébastien
- Wolf, Nicole I
- Bernard, Geneviève
2019
Link zum Volltext
American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1336-1351
2011
Link zum Volltext
Physiotherapy research international : the journal for researchers and clinicians in physical therapy, 2014-06, Vol.19 (2), p.117-125
2014
Link zum Volltext
Pediatric radiology, 2008-09, Vol.38 (9), p.994-998
2008
Link zum Volltext
Otology & neurotology, 2001-11, Vol.22 (6), p.813
2001
Link zum Volltext
Congestive heart failure (Greenwich, Conn.), 2011-03, Vol.17 (2), p.101-103
2011
Link zum Volltext
American journal of medical genetics. Part A, 2007-11, Vol.143A (22), p.2700-2705
2007
Link zum Volltext
Congenital heart disease, 2010-09, Vol.5 (5), p.486-490
2010
Link zum Volltext
Congenital heart disease, 2010-01, Vol.5 (1), p.70-75
2010
Link zum Volltext
The Journal of clinical investigation, 2021-03, Vol.131 (5), p.1-12
- Lahrouchi, Najim
- Postma, Alex V
- Salazar, Christian M
- De Laughter, Daniel M
- Tjong, Fleur
- Piherová, Lenka
- Bowling, Forrest Z
- Zimmerman, Dominic
- Lodder, Elisabeth M
- Ta-Shma, Asaf
- Perles, Zeev
- Beekman, Leander
- Ilgun, Aho
- Gunst, Quinn
- Hababa, Mariam
- Škorić-Milosavljević, Doris
- Stránecký, Viktor
- Tomek, Viktor
- de Knijff, Peter
- de Leeuw, Rick
- Robinson, Jamille Y
- Burn, Sabrina C
- Mustafa, Hiba
- Ambrose, Matthew
- Moss, Timothy
- Jacober, Jennifer
- Niyazov, Dmitriy M
- Wolf, Barry
- Kim, Katherine H
- Cherny, Sara
- Rousounides, Andreas
- Aristidou-Kallika, Aphrodite
- Tanteles, George
- Ange-Line, Bruel
- Denommé-Pichon, Anne-Sophie
- Francannet, Christine
- Ortiz, Damara
- Haak, Monique C
- Ten Harkel, Arend D.J.
- Manten, Gwendolyn Tr
- Dutman, Annemiek C
- Bouman, Katelijne
- Magliozzi, Monia
- Radio, Francesca Clementina
- Santen, Gijs We
- Herkert, Johanna C
- Brown, H Alex
- Elpeleg, Orly
- van den Hoff, Maurice Jb
- Mulder, Barbara
- Airola, Michael V
- Kmoch, Stanislav
- Barnett, Joey V
- Clur, Sally-Ann
- Frohman, Michael A
- Bezzina, Connie R
2021
Link zum Volltext
Mitochondrion, 2012-09, Vol.12 (5), p.563-564
2012
Link zum Volltext
Genetics in medicine, 2023-01, Vol.25 (1), p.135-142
- Cali, Elisa
- Suri, Mohnish
- Scala, Marcello
- Ferla, Matteo P.
- Alavi, Shahryar
- Faqeih, Eissa Ali
- Bijlsma, Emilia K.
- Wigby, Kristen M.
- Baralle, Diana
- Mehrjardi, Mohammad Y.V.
- Schwab, Jennifer
- Platzer, Konrad
- Steindl, Katharina
- Hashem, Mais
- Jones, Marilyn
- Niyazov, Dmitriy M.
- Jacober, Jennifer
- Littlejohn, Rebecca Okashah
- Weis, Denisa
- Zadeh, Neda
- Rodan, Lance
- Goldenberg, Alice
- Lecoquierre, François
- Dutra-Clarke, Marina
- Horvath, Gabriella
- Young, Dana
- Orenstein, Naama
- Bawazeer, Shahad
- Vulto-van Silfhout, Anneke T.
- Herenger, Yvan
- Dehghani, Mohammadreza
- Seyedhassani, Seyed Mohammad
- Bahreini, Amir
- Nasab, Mahya E.
- Ercan-Sencicek, A. Gulhan
- Firoozfar, Zahra
- Movahedinia, Mojtaba
- Efthymiou, Stephanie
- Striano, Pasquale
- Karimiani, Ehsan Ghayoor
- Salpietro, Vincenzo
- Taylor, Jenny C.
- Redman, Melody
- Stegmann, Alexander P.A.
- Laner, Andreas
- Abdel-Salam, Ghada
- Li, Megan
- Bengala, Mario
- Müller, Amelie Johanna
- Digilio, Maria C.
- Rauch, Anita
- Gunel, Murat
- Titheradge, Hannah
- Schweitzer, Daniela N.
- Kraus, Alison
- Valenzuela, Irene
- McLean, Scott D.
- Phornphutkul, Chanika
- Salih, Mustafa
- Begtrup, Amber
- Schnur, Rhonda E.
- Torti, Erin
- Haack, Tobias B.
- Prada, Carlos E.
- Alkuraya, Fowzan S.
- Houlden, Henry
- Maroofian, Reza
2023
Link zum Volltext
Congenital heart disease, 2010-09, Vol.5 (5), p.486-490
2010
Link zum Volltext
American journal of medical genetics. Part A, 2021, Vol.185 (7), p.2153-2159
2021
Link zum Volltext
Physiotherapy Research International, 2014, Vol.19 (2), p.117-125
2014
Link zum Volltext
Congenital Heart Disease, 2010, Vol.5 (5), p.486-490
2010
Link zum Volltext
Congenital Heart Disease, 2010, Vol.5 (1), p.70-75
2010
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Life Sciences & Biomedicine
- Humans
- Genetics & Heredity
- Male
- Female
- Child
- Child, Preschool
- Intellectual Disability - Genetics
- Mutation
- Phenotype
- Adolescent
- Infant
- Adult
- Magnetic Resonance Imaging
- Autism
- Biological And Medical Sciences
- Neurosciences & Neurology
- Clinical Neurology
- Developmental Disabilities - Genetics
Kollektion
- Journals@Ovid Full Text
- MEDLINE
- EZB Electronic Journals Library
- Wiley-Blackwell Full Collection
- Ingenta
- Wiley Online Library Full Collection 2018
- Publisher website
- Springer Nature - Connect here FIRST to enable access
- Elsevier ScienceDirect Journals Complete
- Springer Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Nexis
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- IngentaConnect Journals
- BSC - Ebsco (Business Source Ultimate)
- Oxford Journals
- Psychology & Behavioral Sciences Collection
- Oxford Journals 2020 Medicine