Søgeresultater - Douglas, Ganka

Uniparental disomy in a population of 32,067 clinical exome trios af Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle

Få fuldtekst Få fuldtekst Få fuldtekst

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes af Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman, Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.

Få fuldtekst Få fuldtekst Få fuldtekst

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes af Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman W., Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.

Få fuldtekst Få fuldtekst Få fuldtekst

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis af Douglas, Ganka V, Wiszniewska, Joanna, Lipson, Mark H, Witt, David R, McDowell, Taryn, Sifry-Platt, Mara, Hirano, Michio, Craigen, William J, Wong, Lee-Jun C

Få fuldtekst Få fuldtekst Få fuldtekst

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans af Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

Få fuldtekst Få fuldtekst Få fuldtekst

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team af Douglas, Ganka, Axelrad, Marni E., Brandt, Mary L., Crabtree, Elizabeth, Dietrich, Jennifer E., French, Shannon, Gunn, Sheila, Karaviti, Lefkothea, Lopez, Monica E., Macias, Charles G., McCullough, Laurence B., Suresh, Deepa, Sutton, V. Reid

Få fuldtekst Få fuldtekst Få fuldtekst

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features af Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.

Få fuldtekst Få fuldtekst Få fuldtekst

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay af Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

Få fuldtekst Få fuldtekst Få fuldtekst

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment af Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K.

Få fuldtekst Få fuldtekst Få fuldtekst

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia af Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

Få fuldtekst Få fuldtekst Få fuldtekst

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness af Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

Få fuldtekst Få fuldtekst Få fuldtekst

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder af Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

Få fuldtekst Få fuldtekst Få fuldtekst

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila af Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

Få fuldtekst Få fuldtekst Få fuldtekst

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes af Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

Få fuldtekst Få fuldtekst Få fuldtekst

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease af Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Haral, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.

Få fuldtekst Få fuldtekst Få fuldtekst

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease af Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.

Få fuldtekst Få fuldtekst Få fuldtekst

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy af Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

Få fuldtekst Få fuldtekst Få fuldtekst

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants af Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

Få fuldtekst Få fuldtekst Få fuldtekst

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants af Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

Få fuldtekst Få fuldtekst Få fuldtekst

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features af Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

Få fuldtekst Få fuldtekst Få fuldtekst