Results
|
1701.
|
|
|
1702.
|
|
|
1703.
|
Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation. [electronic resource] by
- Radic, C P
- Rossetti, L C
- Abelleyro, M M
- Tetzlaff, T
- Candela, M
- Neme, D
- Sciuccati, G
- Bonduel, M
- Medina-Acosta, E
- Larripa, I B
- de Tezanos Pinto, M
- De Brasi, C D
Producer: 20160211
In:
Journal of thrombosis and haemostasis : JTH vol. 13
Availability: No items available.
|
|
1704.
|
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. [electronic resource] by
- Lesca, Gaetan
- Moizard, Marie-Pierre
- Bussy, Gerald
- Boggio, Dominique
- Hu, Hao
- Haas, Stefan A
- Ropers, Hans-Hilger
- Kalscheuer, Vera M
- Des Portes, Vincent
- Labalme, Audrey
- Sanlaville, Damien
- Edery, Patrick
- Raynaud, Martine
- Lespinasse, James
Producer: 20140702
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
|
|
1705.
|
MLL2 and KDM6A mutations in patients with Kabuki syndrome. [electronic resource] by
- Miyake, Noriko
- Koshimizu, Eriko
- Okamoto, Nobuhiko
- Mizuno, Seiji
- Ogata, Tsutomu
- Nagai, Toshiro
- Kosho, Tomoki
- Ohashi, Hirofumi
- Kato, Mitsuhiro
- Sasaki, Goro
- Mabe, Hiroyo
- Watanabe, Yoriko
- Yoshino, Makoto
- Matsuishi, Toyojiro
- Takanashi, Jun-ichi
- Shotelersuk, Vorasuk
- Tekin, Mustafa
- Ochi, Nobuhiko
- Kubota, Masaya
- Ito, Naoko
- Ihara, Kenji
- Hara, Toshiro
- Tonoki, Hidefumi
- Ohta, Tohru
- Saito, Kayoko
- Matsuo, Mari
- Urano, Mari
- Enokizono, Takashi
- Sato, Astushi
- Tanaka, Hiroyuki
- Ogawa, Atsushi
- Fujita, Takako
- Hiraki, Yoko
- Kitanaka, Sachiko
- Matsubara, Yoichi
- Makita, Toshio
- Taguri, Masataka
- Nakashima, Mitsuko
- Tsurusaki, Yoshinori
- Saitsu, Hirotomo
- Yoshiura, Ko-ichiro
- Matsumoto, Naomichi
- Niikawa, Norio
Producer: 20140326
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
|
|
1706.
|
|
|
1707.
|
|
|
1708.
|
Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells. [electronic resource] by
- Enver, Tariq
- Soneji, Shamit
- Joshi, Chirag
- Brown, John
- Iborra, Francisco
- Orntoft, Torben
- Thykjaer, Thomas
- Maltby, Edna
- Smith, Kath
- Abu Dawud, Raed
- Jones, Mark
- Matin, Maryam
- Gokhale, Paul
- Draper, Jonathan
- Andrews, Peter W
Producer: 20060605
In:
Human molecular genetics vol. 14
Availability: No items available.
|
|
1709.
|
Epigenetic differences arise during the lifetime of monozygotic twins. [electronic resource] by
- Fraga, Mario F
- Ballestar, Esteban
- Paz, Maria F
- Ropero, Santiago
- Setien, Fernando
- Ballestar, Maria L
- Heine-Suñer, Damia
- Cigudosa, Juan C
- Urioste, Miguel
- Benitez, Javier
- Boix-Chornet, Manuel
- Sanchez-Aguilera, Abel
- Ling, Charlotte
- Carlsson, Emma
- Poulsen, Pernille
- Vaag, Allan
- Stephan, Zarko
- Spector, Tim D
- Wu, Yue-Zhong
- Plass, Christoph
- Esteller, Manel
Producer: 20051229
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 102
Availability: No items available.
|
|
1710.
|
|
|
1711.
|
|
|
1712.
|
Molecular signatures of human induced pluripotent stem cells highlight sex differences and cancer genes. [electronic resource] by
- Anguera, Montserrat C
- Sadreyev, Ruslan
- Zhang, Zhaoqing
- Szanto, Attila
- Payer, Bernhard
- Sheridan, Steven D
- Kwok, Showming
- Haggarty, Stephen J
- Sur, Mriganka
- Alvarez, Jason
- Gimelbrant, Alexander
- Mitalipova, Maisam
- Kirby, James E
- Lee, Jeannie T
Producer: 20121106
In:
Cell stem cell vol. 11
Availability: No items available.
|
|
1713.
|
|
|
1714.
|
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. [electronic resource] by
- Szafranski, Przemyslaw
- Golla, Sailaja
- Jin, Weihong
- Fang, Ping
- Hixson, Patricia
- Matalon, Reuben
- Kinney, Daniel
- Bock, Hans-Georg
- Craigen, William
- Smith, Janice L
- Bi, Weimin
- Patel, Ankita
- Wai Cheung, Sau
- Bacino, Carlos A
- Stankiewicz, Paweł
Producer: 20160401
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
|
|
1715.
|
|
|
1716.
|
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. [electronic resource] by
- Wimplinger, Isabella
- Morleo, Manuela
- Rosenberger, Georg
- Iaconis, Daniela
- Orth, Ulrike
- Meinecke, Peter
- Lerer, Israela
- Ballabio, Andrea
- Gal, Andreas
- Franco, Brunella
- Kutsche, Kerstin
Producer: 20061204
In:
American journal of human genetics vol. 79
Availability: No items available.
|
|
1717.
|
|
|
1718.
|
|
|
1719.
|
|
|
1720.
|
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. [electronic resource] by
- Chhin, Brigitte
- Hatayama, Minoru
- Bozon, Dominique
- Ogawa, Miyuki
- Schön, Patric
- Tohmonda, Takahide
- Sassolas, François
- Aruga, Jun
- Valard, Anna-Gaëlle
- Chen, Su-Chiung
- Bouvagnet, Patrice
Producer: 20070529
In:
Human mutation vol. 28
Availability: No items available.
|