Ngā hua rapu kaituhi :: APM

1

DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer mā Kurtis D. Davies, Aprille Lomboy, Carolyn A. Lawrence, Michael Yourshaw, Gregary T. Bocsi, D. Ross Camidge, Dara L. Aisner

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia mā Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik–Schöneborn, Kate Pope, Katherine B. Howell, Catriona McLean, Andrew J. Kornberg, Jörg Joseph, Paul J. Lockhart, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Carla M. Koehler, Joanna C. Jen

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome mā Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Barun Das, Jozef Hertecant, Lynn Greenhalgh, Trevor Cole, Vered Pinsk, Baruch Yerushalmi, Ödül Eğritaş, Michael Yourshaw, Erick Hernández, Sandy Oesterreicher, Sandhia Naik, Ian R. Sanderson, Irené Axelsson, Daniel Agardh, C. Richard Boland, Martı́n G. Martı́n, Christopher D. Putnam, Mamata Sivagnanam

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort mā Martı́n G. Martı́n, Iris Lindberg, R. Sergio Solórzano-Vargas, Jiafang Wang, Yaron Avitzur, Robert Bandsma, Christiane Sokollik, Sarah Lawrence, Lindsay A. Pickett, Zijun Chen, Ödül Eğritaş, Buket Dalgıç, Valeria Albornoz, Lissy de Ridder, Jessie M. Hulst, Faysal Gök, Ayşen Aydoğan, Abdulrahman Al‐Hussaini, Deniz Engin Gök, Michael Yourshaw, Sujuan Wu, Galen Cortina, Sara B. Stanford, Senta Georgia

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders mā Hane Lee, Joshua L. Deignan, Naghmeh Dorrani, Samuel P. Strom, Sibel Kantarci, Fabiola Quintero‐Rivera, Kingshuk Das, Traci L. Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent L. Fogel, Julián A. Martínez-Agosto, Derek A. Wong, Vivian Y. Chang, Perry B. Shieh, Christina G.S. Palmer, Katrina M. Dipple, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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6

Pontocerebellar hypoplasia type 1 mā Sabine Rudnik–Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, László Sztriha, J. Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, P. G. Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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7

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration mā Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik–Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen

I whakaputaina 2012

Whiwhi kuputuhi katoa
Artigo

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