Results
|
|
2901.
|
|
|
|
2902.
|
|
|
|
2903.
|
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. [electronic resource] by
- Kumar, Akash
- Zastrow, Diane B
- Kravets, Elijah J
- Beleford, Daniah
- Ruzhnikov, Maura R Z
- Grove, Megan E
- Dries, Annika M
- Kohler, Jennefer N
- Waggott, Daryl M
- Yang, Yaping
- Huang, Yong
- Mackenzie, Katherine M
- Eng, Christine M
- Fisher, Paul G
- Ashley, Euan A
- Teng, Joyce M
- Stevenson, David A
- Shieh, Joseph T
- Wheeler, Matthew T
- Bernstein, Jonathan A
Producer: 20200610
In:
American journal of medical genetics. Part A vol. 179
Availability: No items available.
|
|
|
2904.
|
A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter. [electronic resource] by
- Lee, Byung Dae
- Kong, Ja Young
- Kwon, Chae Hwa
- Park, Je Min
- Lee, Young Min
- Moon, Eunsoo
- Jeong, Hee Jeong
- Kim, Soo Yeon
- Lee, Kang Yoon
- Suh, Hwagyu
Producer: 20181030
In:
Medicine vol. 97
Availability: No items available.
|
|
|
2905.
|
|
|
|
2906.
|
|
|
|
2907.
|
|
|
|
2908.
|
Integrative Molecular Characterization of Resistance to Neoadjuvant Chemoradiation in Rectal Cancer. [electronic resource] by
- Kamran, Sophia C
- Lennerz, Jochen K
- Margolis, Claire A
- Liu, David
- Reardon, Brendan
- Wankowicz, Stephanie A
- Van Seventer, Emily E
- Tracy, Adam
- Wo, Jennifer Y
- Carter, Scott L
- Willers, Henning
- Corcoran, Ryan B
- Hong, Theodore S
- Van Allen, Eliezer M
Producer: 20200821
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 25
Availability: No items available.
|
|
|
2909.
|
|
|
|
2910.
|
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. [electronic resource] by
- Sparago, Angela
- Verma, Ankit
- Patricelli, Maria Grazia
- Pignata, Laura
- Russo, Silvia
- Calzari, Luciano
- De Francesco, Naomi
- Del Prete, Rosita
- Palumbo, Orazio
- Carella, Massimo
- Mackay, Deborah J G
- Rezwan, Faisal I
- Angelini, Claudia
- Cerrato, Flavia
- Cubellis, Maria Vittoria
- Riccio, Andrea
Producer: 20200724
In:
Clinical epigenetics vol. 11
Availability: No items available.
|
|
|
2911.
|
|
|
|
2912.
|
|
|
|
2913.
|
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. [electronic resource] by
- Litchfield, Kevin
- Levy, Max
- Dudakia, Darshna
- Proszek, Paula
- Shipley, Claire
- Basten, Sander
- Rapley, Elizabeth
- Bishop, D Timothy
- Reid, Alison
- Huddart, Robert
- Broderick, Peter
- Castro, David Gonzalez de
- O'Connor, Simon
- Giles, Rachel H
- Houlston, Richard S
- Turnbull, Clare
Producer: 20180904
In:
Nature communications vol. 7
Availability: No items available.
|
|
|
2914.
|
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. [electronic resource] by
- Del Bel, Kate L
- Ragotte, Robert J
- Saferali, Aabida
- Lee, Susan
- Vercauteren, Suzanne M
- Mostafavi, Sara A
- Schreiber, Richard A
- Prendiville, Julie S
- Phang, Min S
- Halparin, Jessica
- Au, Nicholas
- Dean, John M
- Priatel, John J
- Jewels, Emily
- Junker, Anne K
- Rogers, Paul C
- Seear, Michael
- McKinnon, Margaret L
- Turvey, Stuart E
Producer: 20190410
In:
The Journal of allergy and clinical immunology vol. 139
Availability: No items available.
|
|
|
2915.
|
|
|
|
2916.
|
|
|
|
2917.
|
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. [electronic resource] by
- Valera, Elvis Terci
- McConechy, Melissa K
- Gayden, Tenzin
- Rivera, Barbara
- Jones, David T W
- Wittmann, Andrea
- Han, HyeRim
- Bareke, Eric
- Nikbakht, Hamid
- Mikael, Leonie
- Queiroz, Rosane Gomes
- Suazo, Veridiana Kiill
- Phi, Ji Hoon
- Kim, Seung-Ki
- Park, Sung-Hye
- Fukaya, Raita
- Yum, Mi-Sun
- Ko, Tae-Sung
- de Oliveira, Ricardo Santos
- Machado, Helio Rubens
- Brassesco, María Sol
- do Santos, Antonio Carlos
- Simão, Gustavo Novelino
- Ramalho, Leandra Náira Zambelli
- Neder, Luciano
- Scrideli, Carlos Alberto
- Tone, Luiz Gonzaga
- Majewski, Jacek
- Jabado, Nada
Producer: 20191025
In:
Acta neuropathologica vol. 136
Availability: No items available.
|
|
|
2918.
|
Estimating the Contribution of Proteasomal Spliced Peptides to the HLA-I Ligandome. [electronic resource] by
- Mylonas, Roman
- Beer, Ilan
- Iseli, Christian
- Chong, Chloe
- Pak, Hui-Song
- Gfeller, David
- Coukos, George
- Xenarios, Ioannis
- Müller, Markus
- Bassani-Sternberg, Michal
Producer: 20191030
In:
Molecular & cellular proteomics : MCP vol. 17
Availability: No items available.
|
|
|
2919.
|
|
|
|
2920.
|
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. [electronic resource] by
- Almutawa, Walaa
- Smith, Christopher
- Sabouny, Rasha
- Smit, Ryan B
- Zhao, Tian
- Wong, Rachel
- Lee-Glover, Laurie
- Desrochers-Goyette, Justine
- Ilamathi, Hema Saranya
- Suchowersky, Oksana
- Germain, Marc
- Mains, Paul E
- Parboosingh, Jillian S
- Pfeffer, Gerald
- Innes, A Micheil
- Shutt, Timothy E
Producer: 20191217
In:
EBioMedicine vol. 45
Availability: No items available.
|