Results
|
7761.
|
|
|
7762.
|
Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. [electronic resource] by
- Clendenning, Mark
- Young, Joanne P
- Walsh, Michael D
- Woodall, Sonja
- Arnold, Julie
- Jenkins, Mark
- Win, Aung Ko
- Hopper, John L
- Sweet, Kevin
- Gallinger, Steven
- Rosty, Christophe
- Parry, Susan
- Buchanan, Daniel D
Producer: 20171020
In:
PloS one vol. 8
Availability: No items available.
|
|
7763.
|
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. [electronic resource] by
- Okamoto, Yuji
- Goksungur, Meryem Tuba
- Pehlivan, Davut
- Beck, Christine R
- Gonzaga-Jauregui, Claudia
- Muzny, Donna M
- Atik, Mehmed M
- Carvalho, Claudia M B
- Matur, Zeliha
- Bayraktar, Serife
- Boone, Philip M
- Akyuz, Kaya
- Gibbs, Richard A
- Battaloglu, Esra
- Parman, Yesim
- Lupski, James R
Producer: 20150110
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 16
Availability: No items available.
|
|
7764.
|
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. [electronic resource] by
- Fukami, Maki
- Tsuchiya, Takayoshi
- Vollbach, Heike
- Brown, Kristy A
- Abe, Shuji
- Ohtsu, Shigeyuki
- Wabitsch, Martin
- Burger, Henry
- Simpson, Evan R
- Umezawa, Akihiro
- Shihara, Daizou
- Nakabayashi, Kazuhiko
- Bulun, Serdar E
- Shozu, Makio
- Ogata, Tsutomu
Producer: 20140414
In:
The Journal of clinical endocrinology and metabolism vol. 98
Availability: No items available.
|
|
7765.
|
|
|
7766.
|
|
|
7767.
|
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant. [electronic resource] by
- Potic, Ana
- Pavlovic, Aleksandra M
- Uziel, Graziella
- Kozic, Dusko
- Ostojic, Jelena
- Rovelli, Attilio
- Sternic, Nadezda
- Bjelan, Mladen
- Sarto, Elisa
- Di Bella, Daniela
- Taroni, Franco
Producer: 20140228
In:
Journal of neurology vol. 260
Availability: No items available.
|
|
7768.
|
|
|
7769.
|
|
|
7770.
|
|
|
7771.
|
|
|
7772.
|
|
|
7773.
|
|
|
7774.
|
IGHV1-69 polymorphism modulates anti-influenza antibody repertoires, correlates with IGHV utilization shifts and varies by ethnicity. [electronic resource] by
- Avnir, Yuval
- Watson, Corey T
- Glanville, Jacob
- Peterson, Eric C
- Tallarico, Aimee S
- Bennett, Andrew S
- Qin, Kun
- Fu, Ying
- Huang, Chiung-Yu
- Beigel, John H
- Breden, Felix
- Zhu, Quan
- Marasco, Wayne A
Producer: 20161226
In:
Scientific reports vol. 6
Availability: No items available.
|
|
7775.
|
|
|
7776.
|
|
|
7777.
|
|
|
7778.
|
|
|
7779.
|
The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. [electronic resource] by
- Kusenda, Mary
- Vacic, Vladimir
- Malhotra, Dheeraj
- Rodgers, Linda
- Pavon, Kevin
- Meth, Jennifer
- Kumar, Ravinesh A
- Christian, Susan L
- Peeters, Hilde
- Cho, Shawn S
- Addington, Anjene
- Rapoport, Judith L
- Sebat, Jonathan
Producer: 20160815
In:
Journal of child neurology vol. 30
Availability: No items available.
|
|
7780.
|
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. [electronic resource] by
- Allach El Khattabi, Laïla
- Heide, Solveig
- Caberg, Jean-Hubert
- Andrieux, Joris
- Doco Fenzy, Martine
- Vincent-Delorme, Caroline
- Callier, Patrick
- Chantot-Bastaraud, Sandra
- Afenjar, Alexandra
- Boute-Benejean, Odile
- Cordier, Marie Pierre
- Faivre, Laurence
- Francannet, Christine
- Gerard, Marion
- Goldenberg, Alice
- Masurel-Paulet, Alice
- Mosca-Boidron, Anne-Laure
- Marle, Nathalie
- Moncla, Anne
- Le Meur, Nathalie
- Mathieu-Dramard, Michèle
- Plessis, Ghislaine
- Lesca, Gaetan
- Rossi, Massimiliano
- Edery, Patrick
- Delahaye-Duriez, Andrée
- De Pontual, Loïc
- Tabet, Anne Claude
- Lebbar, Aziza
- Suiro, Lesley
- Ioos, Christine
- Natiq, Abdelhafid
- Chafai Elalaoui, Siham
- Missirian, Chantal
- Receveur, Aline
- François-Fiquet, Caroline
- Garnier, Pascal
- Yardin, Catherine
- Laroche, Cécile
- Vago, Philippe
- Sanlaville, Damien
- Dupont, Jean Michel
- Benzacken, Brigitte
- Pipiras, Eva
Producer: 20210611
In:
Journal of medical genetics vol. 57
Availability: No items available.
|