نتائج البحث - Konidari, Ioanna

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) حسب Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Identification of Chromosome 7 Inversion Breakpoints in an Autistic Family Narrows Candidate Region for Autism Susceptibility حسب Cukier, Holly N., Skaar, David A., Rayner-Evans, Melissa Y., Konidari, Ioanna, Whitehead, Patrice L., Jaworski, James M., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families حسب Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families حسب Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan

احصل على النص الكامل احصل على النص الكامل

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals حسب Cukier, Holly N., Rabionet, Raquel, Konidari, Ioanna, Rayner-Evans, Melissa Y., Baltos, Mary L., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism حسب Hussman, John P, Chung, Ren-Hua, Griswold, Anthony J, Jaworski, James M, Salyakina, Daria, Ma, Deqiong, Konidari, Ioanna, Whitehead, Patrice L, Vance, Jeffery M, Martin, Eden R, Cuccaro, Michael L, Gilbert, John R, Haines, Jonathan L, Pericak-Vance, Margaret A

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Evaluating mitochondrial DNA variation in autism spectrum disorders حسب HADJIXENOFONTOS, ATHENA, SCHMIDT, MICHAEL A., WHITEHEAD, PATRICE L., KONIDARI, IOANNA, HEDGES, DALE J., WRIGHT, HARRY H., ABRAMSON, RUTH K., MENON, RAMKUMAR, WILLIAMS, SCOTT M., CUCCARO, MICHAEL L., HAINES, JONATHAN L., GILBERT, JOHN R., PERICAK-VANCE, MARGARET A., MARTIN, EDEN R., MCCAULEY, JACOB L.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease حسب Edwards, Todd L., Scott, William K., Almonte, Cherylyn, Burt, Amber, Powell, Eric H., Beecham, Gary W., Wang, Liyong, Züchner, Stephan, Konidari, Ioanna, Wang, Gaofeng, Singer, Carlos, Nahab, Fatta, Scott, Burton, Stajich, Jeffrey M., Pericak-Vance, Margaret, Haines, Jonathan, Vance, Jeffery M., Martin, Eden R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males حسب Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk حسب Salyakina, Daria, Cukier, Holly N., Lee, Joycelyn M., Sacharow, Stephanie, Nations, Laura D., Ma, Deqiong, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants حسب Griswold, Anthony J., Dueker, Nicole D., Van Booven, Derek, Rantus, Joseph A., Jaworski, James M., Slifer, Susan H., Schmidt, Michael A., Hulme, William, Konidari, Ioanna, Whitehead, Patrice L., Cuccaro, Michael L., Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Hussman, John P., Pericak-Vance, Margaret A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities حسب Naj, Adam C., Beecham, Gary W., Martin, Eden R., Gallins, Paul J., Powell, Eric H., Konidari, Ioanna, Whitehead, Patrice L., Cai, Guiqing, Haroutunian, Vahram, Scott, William K., Vance, Jeffery M., Slifer, Michael A., Gwirtsman, Harry E., Gilbert, John R., Haines, Jonathan L., Buxbaum, Joseph D., Pericak-Vance, Margaret A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Linkage and association of successful aging to the 6q25 region in large Amish kindreds حسب Edwards, Digna R. Velez, Gilbert, John R., Hicks, James E., Myers, Jamie L., Jiang, Lan, Cummings, Anna C., Guo, Shengru, Gallins, Paul J., Konidari, Ioanna, Caywood, Laura, Reinhart-Mercer, Lori, Fuzzell, Denise, Knebusch, Claire, Laux, Renee, Jackson, Charles E., Pericak-Vance, Margaret A., Haines, Jonathan L., Scott, William K.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene حسب Cummings, Anna C., Jiang, Lan, Velez Edwards, Digna R., McCauley, Jacob L., Laux, Renee, McFarland, Lynne L., Fuzzell, Denise, Knebusch, Clare, Caywood, Laura, Reinhart-Mercer, Lori, Nations, Laura, Gilbert, John R., Konidari, Ioanna, Tramontana, Michael, Cuccaro, Michael L., Scott, William K., Pericak-Vance, Margaret A., Haines, Jonathan L.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa حسب Züchner, Stephan, Dallman, Julia, Wen, Rong, Beecham, Gary, Naj, Adam, Farooq, Amjad, Kohli, Martin A., Whitehead, Patrice L., Hulme, William, Konidari, Ioanna, Edwards, Yvonne J.K., Cai, Guiqing, Peter, Inga, Seo, David, Buxbaum, Joseph D., Haines, Jonathan L., Blanton, Susan, Young, Juan, Alfonso, Eduardo, Vance, Jeffery M., Lam, Byron L., Peričak-Vance, Margaret A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways حسب Griswold, Anthony J., Ma, Deqiong, Cukier, Holly N., Nations, Laura D., Schmidt, Mike A., Chung, Ren-Hua, Jaworski, James M., Salyakina, Daria, Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders حسب Cukier, Holly N, Dueker, Nicole D, Slifer, Susan H, Lee, Joycelyn M, Whitehead, Patrice L, Lalanne, Eminisha, Leyva, Natalia, Konidari, Ioanna, Gentry, Ryan C, Hulme, William F, Booven, Derek Van, Mayo, Vera, Hofmann, Natalia K, Schmidt, Michael A, Martin, Eden R, Haines, Jonathan L, Cuccaro, Michael L, Gilbert, John R, Pericak-Vance, Margaret A

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1 حسب Ma, DQ, Salyakina, Daria, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Andersen, Ashley N., Hoffman, Joshua D., Slifer, Susan H., Hedges, Dale J., Cukier, Holly N., McCauley, Jacob L., Beecham, Gary W., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Hussman, John P., Gilbert, John R., Cuccaro, Michael L., Haines, Jonathan L., Pericak-Vance., Margaret A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement حسب Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence CS, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter

احصل على النص الكامل احصل على النص الكامل

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement حسب Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence C S, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل