检索结果 - Willer, Jason

snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5 由 Daly, Christina M. S., Willer, Jason, Gregg, Ronald, Gross, Jeffrey M.

获取全文 获取全文 获取全文

Whole Exome Sequencing of a Dominant Retinitis Pigmentosa Family Identifies a Novel Deletion in PRPF31 由 Villanueva, Adda, Willer, Jason R., Bryois, Julien, Dermitzakis, Emmanouil T., Katsanis, Nicholas, Davis, Erica E.

获取全文 获取全文 获取全文

Muscle Contractions Guide Rohon–Beard Peripheral Sensory Axons 由 Paulus, Jeremiah D., Willer, Gregory B., Willer, Jason R., Gregg, Ronald G., Halloran, Mary C.

获取全文 获取全文 获取全文

Zebrafish blowout provides genetic evidence for Patched1 mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye 由 Lee, Jiwoon, Willer, Jason R., Willer, Gregory B., Smith, Kierann, Gregg, Ronald G., Gross, Jeffrey M.

获取全文 获取全文 获取全文

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish 由 Ryan, Sean, Willer, Jason, Marjoram, Lindsay, Bagwell, Jennifer, Mankiewicz, Jamie, Leshchiner, Ignaty, Goessling, Wolfram, Bagnat, Michel, Katsanis, Nicholas

获取全文 获取全文 获取全文

The GARP Domain of the Rod CNG Channel's β1-Subunit Contains Distinct Sites for Outer Segment Targeting and Connecting to the Photoreceptor Disk Rim 由 Pearring, Jillian N., Martínez-Márquez, Jorge, Willer, Jason R., Lieu, Eric C., Salinas, Raquel Y., Arshavsky, Vadim Y.

获取全文 获取全文 获取全文

Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration 由 Chen, Chen-Hui, Merriman, Alexander F., Savage, Jeremiah, Willer, Jason, Wahlig, Taylor, Katsanis, Nicholas, Yin, Viravuth P., Poss, Kenneth D.

获取全文 获取全文 获取全文

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome 由 Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.

获取全文 获取全文 获取全文

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration 由 Tan, Perciliz L., Garrett, Melanie E., Willer, Jason R., Campochiaro, Peter A., Campochiaro, Betsy, Zack, Donald J., Ashley-Koch, Allison E., Katsanis, Nicholas

获取全文 获取全文 获取全文

Neural and Synaptic Defects in slytherin, a Zebrafish Model for Human Congenital Disorders of Glycosylation 由 Song, Yuanquan, Willer, Jason R., Scherer, Paul C., Panzer, Jessica A., Kugath, Amy, Skordalakes, Emmanuel, Gregg, Ronald G., Willer, Gregory B., Balice-Gordon, Rita J.

获取全文 获取全文 获取全文

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans 由 Brooks, Susan S., Wall, Alissa L., Golzio, Christelle, Reid, David W., Kondyles, Amalia, Willer, Jason R., Botti, Christina, Nicchitta, Christopher V., Katsanis, Nicholas, Davis, Erica E.

获取全文 获取全文 获取全文

Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry 由 Texier, Yves, Toedt, Grischa, Gorza, Matteo, Mans, Dorus A., van Reeuwijk, Jeroen, Horn, Nicola, Willer, Jason, Katsanis, Nicholas, Roepman, Ronald, Gibson, Toby J., Ueffing, Marius, Boldt, Karsten

获取全文 获取全文 获取全文

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA 由 Haud, Noémie, Kara, Firat, Diekmann, Simone, Henneke, Marco, Willer, Jason R., Hillwig, Melissa S., Gregg, Ronald G., MacIntosh, Gustavo C., Gärtner, Jutta, Alia, A., Hurlstone, Adam F. L.

获取全文 获取全文 获取全文

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV 由 Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas

获取全文 获取全文 获取全文

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome 由 Ta-Shma, Asaf, Khan, Tahir N., Vivante, Asaf, Willer, Jason R., Matak, Pavle, Jalas, Chaim, Pode-Shakked, Ben, Salem, Yishay, Anikster, Yair, Hildebrandt, Friedhelm, Katsanis, Nicholas, Elpeleg, Orly, Davis, Erica E.

获取全文 获取全文 获取全文

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion 由 Spataro, Rossella, Kousi, Maria, Farhan, Sali M. K., Willer, Jason R., Ross, Jay P., Dion, Patrick A., Rouleau, Guy A., Daly, Mark J., Neale, Benjamin M., La Bella, Vincenzo, Katsanis, Nicholas

获取全文 获取全文 获取全文

Maternal topoisomerase II alpha, not topoisomerase II beta, enables embryonic development of zebrafish top2a(-/- )mutants 由 Sapetto-Rebow, Beata, McLoughlin, Sarah C, O'Shea, Lynne C, O'Leary, Olivia, Willer, Jason R, Alvarez, Yolanda, Collery, Ross, O'Sullivan, Jacintha, Van Eeden, Freek, Hensey, Carmel, Kennedy, Breandán N

获取全文 获取全文 获取全文

Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma 由 Veth, Kerry N., Willer, Jason R., Collery, Ross F., Gray, Matthew P., Willer, Gregory B., Wagner, Daniel S., Mullins, Mary C., Udvadia, Ava J., Smith, Richard S., John, Simon W. M., Gregg, Ronald G., Link, Brian A.

获取全文 获取全文 获取全文

Loss of Lrp2 in zebrafish disrupts pronephric tubular clearance but not forebrain development 由 Kur, Esther, Christa, Anna, Veth, Kerry N., Gajera, Chandresh R., Andrade-Navarro, Miguel A., Zhang, Jingjing, Willer, Jason R., Gregg, Ronald G., Abdelilah-Seyfried, Salim, Bachmann, Sebastian, Link, Brian A., Hammes, Annette, Willnow, Thomas E.

获取全文 获取全文 获取全文

Epigenetic control of intestinal barrier function and inflammation in zebrafish 由 Marjoram, Lindsay, Alvers, Ashley, Deerhake, M. Elizabeth, Bagwell, Jennifer, Mankiewicz, Jamie, Cocchiaro, Jordan L., Beerman, Rebecca W., Willer, Jason, Sumigray, Kaelyn D., Katsanis, Nicholas, Tobin, David M., Rawls, John F., Goll, Mary G., Bagnat, Michel

获取全文 获取全文 获取全文