Results
|
5741.
|
|
|
5742.
|
|
|
5743.
|
|
|
5744.
|
|
|
5745.
|
|
|
5746.
|
|
|
5747.
|
|
|
5748.
|
|
|
5749.
|
|
|
5750.
|
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. [electronic resource] by
- Errichiello, Edoardo
- Mustafa, Noor
- Vetro, Annalisa
- Notarangelo, Lucia Dora
- de Jonge, Hugo
- Rinaldi, Berardo
- Vergani, Debora
- Giglio, Sabrina Rita
- Morbini, Patrizia
- Zuffardi, Orsetta
Producer: 20170926
In:
The Journal of pathology vol. 243
Availability: No items available.
|
|
5751.
|
|
|
5752.
|
Mutational analysis of the tyrosine phosphatome in colorectal cancers. [electronic resource] by
- Wang, Zhenghe
- Shen, Dong
- Parsons, D Williams
- Bardelli, Alberto
- Sager, Jason
- Szabo, Steve
- Ptak, Janine
- Silliman, Natalie
- Peters, Brock A
- van der Heijden, Michiel S
- Parmigiani, Giovanni
- Yan, Hai
- Wang, Tian-Li
- Riggins, Greg
- Powell, Steven M
- Willson, James K V
- Markowitz, Sanford
- Kinzler, Kenneth W
- Vogelstein, Bert
- Velculescu, Victor E
Producer: 20040614
In:
Science (New York, N.Y.) vol. 304
Availability: No items available.
|
|
5753.
|
|
|
5754.
|
|
|
5755.
|
|
|
5756.
|
Rare coding variants and X-linked loci associated with age at menarche. [electronic resource] by
- Lunetta, Kathryn L
- Day, Felix R
- Sulem, Patrick
- Ruth, Katherine S
- Tung, Joyce Y
- Hinds, David A
- Esko, Tõnu
- Elks, Cathy E
- Altmaier, Elisabeth
- He, Chunyan
- Huffman, Jennifer E
- Mihailov, Evelin
- Porcu, Eleonora
- Robino, Antonietta
- Rose, Lynda M
- Schick, Ursula M
- Stolk, Lisette
- Teumer, Alexander
- Thompson, Deborah J
- Traglia, Michela
- Wang, Carol A
- Yerges-Armstrong, Laura M
- Antoniou, Antonis C
- Barbieri, Caterina
- Coviello, Andrea D
- Cucca, Francesco
- Demerath, Ellen W
- Dunning, Alison M
- Gandin, Ilaria
- Grove, Megan L
- Gudbjartsson, Daniel F
- Hocking, Lynne J
- Hofman, Albert
- Huang, Jinyan
- Jackson, Rebecca D
- Karasik, David
- Kriebel, Jennifer
- Lange, Ethan M
- Lange, Leslie A
- Langenberg, Claudia
- Li, Xin
- Luan, Jian'an
- Mägi, Reedik
- Morrison, Alanna C
- Padmanabhan, Sandosh
- Pirie, Ailith
- Polasek, Ozren
- Porteous, David
- Reiner, Alex P
- Rivadeneira, Fernando
- Rudan, Igor
- Sala, Cinzia F
- Schlessinger, David
- Scott, Robert A
- Stöckl, Doris
- Visser, Jenny A
- Völker, Uwe
- Vozzi, Diego
- Wilson, James G
- Zygmunt, Marek
- Boerwinkle, Eric
- Buring, Julie E
- Crisponi, Laura
- Easton, Douglas F
- Hayward, Caroline
- Hu, Frank B
- Liu, Simin
- Metspalu, Andres
- Pennell, Craig E
- Ridker, Paul M
- Strauch, Konstantin
- Streeten, Elizabeth A
- Toniolo, Daniela
- Uitterlinden, André G
- Ulivi, Sheila
- Völzke, Henry
- Wareham, Nicholas J
- Wellons, Melissa
- Franceschini, Nora
- Chasman, Daniel I
- Thorsteinsdottir, Unnur
- Murray, Anna
- Stefansson, Kari
- Murabito, Joanne M
- Ong, Ken K
- Perry, John R B
Producer: 20160412
In:
Nature communications vol. 6
Availability: No items available.
|
|
5757.
|
|
|
5758.
|
|
|
5759.
|
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. [electronic resource] by
- Zazo Seco, Celia
- Castells-Nobau, Anna
- Joo, Seol-Hee
- Schraders, Margit
- Foo, Jia Nee
- van der Voet, Monique
- Velan, S Sendhil
- Nijhof, Bonnie
- Oostrik, Jaap
- de Vrieze, Erik
- Katana, Radoslaw
- Mansoor, Atika
- Huynen, Martijn
- Szklarczyk, Radek
- Oti, Martin
- Tranebjærg, Lisbeth
- van Wijk, Erwin
- Scheffer-de Gooyert, Jolanda M
- Siddique, Saadat
- Baets, Jonathan
- de Jonghe, Peter
- Kazmi, Syed Ali Raza
- Sadananthan, Suresh Anand
- van de Warrenburg, Bart P
- Khor, Chiea Chuen
- Göpfert, Martin C
- Qamar, Raheel
- Schenck, Annette
- Kremer, Hannie
- Siddiqi, Saima
Producer: 20171204
In:
Disease models & mechanisms vol. 10
Availability: No items available.
|
|
5760.
|
|