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Published in Genetics in medicine (01.03.2018)
Published in Genetics in medicine (01.03.2018)
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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
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Gap Junctions: Basic Structure and Function
Meşe, Gülistan, Richard, Gabriele, White, Thomas W.
Published in Journal of investigative dermatology (01.11.2007)
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Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Published in Journal of medical genetics (01.04.2023)
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Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
Ralph, Douglas, Levine, Michael A., Richard, Gabriele, Morrow, Michelle M., Flynn, Elizabeth K., Uitto, Jouni, Li, Qiaoli
Published in Human mutation (01.09.2022)
Published in Human mutation (01.09.2022)
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Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
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
Published in American journal of human genetics (13.07.2012)
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Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Oji, Vinzenz, MD, Tadini, Gianluca, MD, Akiyama, Masashi, MD, PhD, Blanchet Bardon, Claudine, MD, Bodemer, Christine, MD, PhD, Bourrat, Emmanuelle, MD, Coudiere, Philippe, PharmD, DiGiovanna, John J., MD, Elias, Peter, MD, Fischer, Judith, MD, PhD, Fleckman, Philip, MD, Gina, Michal, MD, Harper, John, MD, FCRCP, FRCPCH, Hashimoto, Takashi, MD, Hausser, Ingrid, PhD, Hennies, Hans Christian, PhD, Hohl, Daniel, MD, PhD, Hovnanian, Alain, MD, PhD, Ishida-Yamamoto, Akemi, MD, PhD, Jacyk, Witold K., MD, Leachman, Sancy, MD, PhD, Leigh, Irene, MD, FRCP, FMedSci, Mazereeuw-Hautier, Juliette, MD, PhD, Milstone, Leonard, MD, Morice-Picard, Fanny, MD, Paller, Amy S., MS, MD, Richard, Gabriele, MD, FACMG, Schmuth, Matthias, MD, Shimizu, Hiroshi, MD, PhD, Sprecher, Eli, MD, PhD, Van Steensel, Maurice, MD, PhD, Taïeb, Alain, MD, Toro, Jorge R., MD, Vabres, Pierre, MD, Vahlquist, Anders, MD, PhD, Williams, Mary, MD, Traupe, Heiko, MD
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Published in Journal of the American Academy of Dermatology (01.10.2010)
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Sprecher, Eli, Topaz, Orit, Shurman, Daniel L, Bergman, Reuven, Indelman, Margarita, Ratajczak, Paulina, Mizrachi, Mordechai, Khamaysi, Ziad, Behar, Doron, Petronius, Dan, Friedman, Vered, Zelikovic, Israel, Raimer, Sharon, Metzker, Arieh, Richard, Gabriele
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Published in Nature genetics (01.06.2004)
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Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia
Valentin, Monica N., Solomon, Benjamin D., Richard, Gabriele, Ferreira, Carlos R., Kirkorian, Anna Yasmine
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
Chen, Robert, Diaz‐Miranda, Maria Alejandra, Aref‐Eshghi, Erfan, Hartman, Tiffiney R., Griffith, Christopher, Morrison, Jennifer L., Wheeler, Patricia G., Torti, Erin, Richard, Gabriele, Kenna, Margaret, Dechene, Elizabeth T., Spinner, Nancy B., Bai, Renkui, Conlin, Laura K., Krantz, Ian D., Amr, Sami S., Luo, Minjie
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Diseases of epidermal keratins and their linker proteins
Uitto, Jouni, Richard, Gabriele, McGrath, John A.
Published in Experimental cell research (10.06.2007)
Published in Experimental cell research (10.06.2007)
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More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
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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Published in Journal of the American Academy of Dermatology (01.03.2019)
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Bai, Renkui, Cui, Hong, Devaney, Joseph M., Allis, Katrina M., Balog, Amanda M., Liu, Xinyue, Schnur, Rhonda E., Shapiro, Faye L., Brautbar, Ariel, Estrada-Veras, Juvianee I., Hochstetler, Laurel, McConkie-Rosell, Allyn, McDonald, Marie T., Solomon, Benjamin D., Hofherr, Sean, Richard, Gabriele, Suchy, Sharon F.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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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
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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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
Mese, Gulistan, Sellitto, Caterina, Li, Leping, Wang, Hong-Zhan, Valiunas, Virginijus, Richard, Gabriele, Brink, Peter R, White, Thomas W
Published in Molecular biology of the cell (15.12.2011)
Published in Molecular biology of the cell (15.12.2011)
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Chen, Chun-An, Bosch, Daniëlle G.M., Cho, Megan T., Rosenfeld, Jill A., Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G., Elmslie, Frances, Douglas, Ganka, Boonstra, F. Nienke, Millan, Francisca, Cremers, Frans P.M., McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K., Niyazov, Dmitriy, Pascual, Juan M., Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M., de Vries, Bert B.A., Schaaf, Christian
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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