Результаты поиска - Richard, Gabriele

DISEASES OF EPIDERMAL KERATINS AND THEIR LINKER PROTEINS по Uitto, Jouni, Richard, Gabriele, McGrath, John A.

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GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activ... по Chefetz, Ilana, Kohno, Kimitoshi, Izumi, Hiroto, Uitto, Jouni, Richard, Gabriele, Sprecher, Eli

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The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome по Mese, Gulistan, Sellitto, Caterina, Li, Leping, Wang, Hong-Zhan, Valiunas, Virginijus, Richard, Gabriele, Brink, Peter R., White, Thomas W.

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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders по Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A

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Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness по Abrams, Charles K., Freidin, Mona M., Verselis, Vytas K., Bargiello, Thaddeus A., Kelsell, David P., Richard, Gabriele, Bennett, Michael V. L., Bukauskas, Feliksas F.

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A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis по Topaz, Orit, Indelman, Margarita, Chefetz, Ilana, Geiger, Dan, Metzker, Aryeh, Altschuler, Yoram, Choder, Mordechai, Bercovich, Dani, Uitto, Jouni, Bergman, Reuven, Richard, Gabriele, Sprecher, Eli

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Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome по Engelstad, Holly, Carney, Gael, S'Aulis, Dana, Rise, Janae, Sanger, Warren G., Rudd, M. Katharine, Richard, Gabriele, Carr, Christopher W., Abdul-Rahman, Omar A., Rizzo, William B.

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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome по Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

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Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein по Chefetz, Ilana, Ben Amitai, Danny, Browning, Sarah, Skorecki, Karl, Adir, Noam, Thomas, Mark G., Kogleck, Larissa, Topaz, Orit, Indelman, Margarita, Uitto, Jouni, Richard, Gabriele, Bradman, Neil, Sprecher, Eli

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Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome по Zhang, April, Duchatelet, Sabine, Lakdawala, Nikita, Tower, Richard L., Diamond, Carrie, Marathe, Kalyani, Hill, India, Richard, Gabriele, Diab, Yaser, Kirkorian, Anna Yasmine, Watanabe, Flora, Siegel, Dawn H., Hovnanian, Alain

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Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome по Griffith, Andrew J., Yang, Yandan, Pryor, Shannon P., Park, Hong-Joon, Jabs, Ethylin Wang, Nadol, Joseph B., Russell, Laura J., Wasserman, Daniel I., Richard, Gabriele, Adams, Joe C., Merchant, Saumil N.

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Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14 по Lugassy, Jennie, Itin, Peter, Ishida-Yamamoto, Akemi, Holland, Kristen, Huson, Susan, Geiger, Dan, Hennies, Hans Christian, Indelman, Margarita, Bercovich, Dani, Uitto, Jouni, Bergman, Reuven, McGrath, John A., Richard, Gabriele, Sprecher, Eli

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Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14 по Fuchs-Telem, Dana, Sarig, Ofer, van Steensel, Maurice A.M., Isakov, Ofer, Israeli, Shirli, Nousbeck, Janna, Richard, Katharina, Winnepenninckx, Veronique, Vernooij, Marigje, Shomron, Noam, Uitto, Jouni, Fleckman, Philip, Richard, Gabriele, Sprecher, Eli

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Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (ACTA1) по Laing, Nigel G., Dye, Danielle E., Wallgren-Pettersson, Carina, Richard, Gabriele, Monnier, Nicole, Lillis, Suzanne, Winder, Thomas L., Lochmüller, Hanns, Graziano, Claudio, Mitrani-Rosenbaum, Stella, Tuomey, Darren, Sparrow, John C., Beggs, Alan H., Nowak, Kristen J.

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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience по Al‐Dewik, Nader, Mohd, Howaida, Al‐Mureikhi, Mariam, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, El‐Akouri, Karen, Almulla, Mariam, Al Sulaiman, Reem, Musa, Sara, Al‐Marri, Ajayeb Al‐Nabet, Richard, Gabriele, Juusola, Jane, Solomon, Benjamin D., Alkuraya, Fowzan S., Ben‐Omran, Tawfeg

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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 по 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.

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More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations по Lilly, Evelyn, Bunick, Christopher G., Maley, Alexander M., Zhang, Shali, Spraker, Mary K, Theos, Amy J, Vivar, Karina L, Seminario-Vidal, Lucia, Bennett, Adam E, Sidbury, Robert, Ogawa, Yasushi, Akiyama, Masashi, Binder, Barbara, Hadj-Rabia, Smail, Morotti, Raffaella A., Glusac, Earl J., Choate, Keith A., Richard, Gabriele, Milstone, Leonard M

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Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype по Zou, Fanggeng, McWalter, Kirsty, Schmidt, Lindsay, Decker, Amy, Picker, Jonathan D., Lincoln, Sharyn, Sweetser, David A., Briere, Lauren C., Chellamani, Harini, Marsh, Eric, Medne, Livija, Wang, Raymond Y, Leydiker, Karen, Mower, Andrew, Visser, Gepke, Cuppen, Inge, van Gassen, Koen L, van der Smagt, Jasper, Yousaf, Adeel, Tennison, Michael, Shanmugham, Anita, Butler, Elizabeth, Richard, Gabriele, McKnight, Dianalee

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... по Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit

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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Ca... по Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M., Bronicki, Lucas, Cirino, Allison, Hawley, Megan H., Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A., Kurtz, C. Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K., Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L., Winder, Tom, Ware, James S., Hershberger, Ray E., Funke, Birgit H., Vatta, Matteo

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