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1دورية أكاديمية
المؤلفون: Karayol, Remzi, Borroto, Maria Carla, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea K., Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann M., Mulligan, Meghan R., Bicknell, Louise S., Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie S., van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid P.C., Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin W., Shashi, Vandana, Sullivan, Jennifer A., Peron, Angela, Iascone, Maria, Canevini, Maria P., Friedman, Jennifer, Reyes, Iris A., Kierstein, Janell, Shen, Joseph J., Ahmed, Faria N., Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna Alexis, Monaghan, Kristin G., Rousseau, Justine, Myers, Kenneth A., Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe M.
المصدر: In The American Journal of Human Genetics 11 July 2024 111(7):1330-1351
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2دورية أكاديمية
المؤلفون: Alstrup, Morten, Cesca, Fabrizia, Krawczun-Rygmaczewska, Alicja, López-Menéndez, Celia, Pose-Utrilla, Julia, Castberg, Filip Christian, Bjerager, Mia Ortved, Finnila, Candice, Kruer, Michael C., Bakhtiari, Somayeh, Padilla-Lopez, Sergio, Manwaring, Linda, Keren, Boris, Afenjar, Alexandra, Galatolo, Daniele, Scalise, Roberta, Santorelli, Fillippo M., Shillington, Amelle, Vezain, Myriam, Martinovic, Jelena, Stevens, Cathy, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Thiffault, Isabelle, Pastinen, Tomi, Baranano, Kristin, Lee, Angela, Granadillo, Jorge, Glassford, Megan R., Keegan, Catherine E., Matthews, Nicole, Saugier-Veber, Pascale, Iglesias, Teresa, Østergaard, Elsebet
المصدر: In Genetics in Medicine July 2024
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3دورية أكاديمية
المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A
المصدر: Molecular Genetics & Genomic Medicine. 9(10)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9ct9z1sm
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4دورية أكاديمية
المصدر: In eNeurologicalSci June 2023 31
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5دورية أكاديمية
المؤلفون: Sacoto, Maria J Guillen, Tchasovnikarova, Iva A, Torti, Erin, Forster, Cara, Andrew, E Hallie, Anselm, Irina, Baranano, Kristin W, Briere, Lauren C, Cohen, Julie S, Craigen, William J, Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J, Fatemi, Ali, Fraser, Jamie L, Gallagher, Renata C, Guerin, Andrea, Haynes, Devon, High, Frances A, Inglese, Cara N, Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S, Morel, Chantal F, Mu, Weiyi, Muller, Eric A, Nance, Jessica, Natowicz, Marvin R, Numis, Adam L, Ostrem, Bridget, Pappas, John, Stafstrom, Carl E, Streff, Haley, Sweetser, David A, Szybowska, Marta, Network, Undiagnosed Diseases, Walker, Melissa A, Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G, Yoon, Grace, Kingston, Robert E, Juusola, Jane
المصدر: American Journal of Human Genetics. 107(2)
مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Congenital Structural Anomalies, Clinical Research, Dental/Oral and Craniofacial Disease, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Craniofacial Abnormalities, Female, Genetic Diseases, Inborn, Growth Disorders, Heterozygote, Humans, Infant, Intellectual Disability, Male, Microcephaly, Middle Aged, Mutation, Neurodevelopmental Disorders, Phenotype, Transcription Factors, Young Adult, Undiagnosed Diseases Network, CMT2Z, Leigh-like disease, MORC2, developmental delay, intellectual disability, microcephaly, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6n82g05c
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6دورية أكاديمية
المؤلفون: Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan GhayoorAff3, Aff4, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S.Aff11, Aff12, Baranano, KristinAff11, Aff12, Ismail, Fatima Y.Aff12, Aff13, Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, SaadetAff17, Aff18, Maki, YutaAff19, Aff20, Sachdev, RaniAff21, Aff22, Macintosh, Rebecca, Palmer, Elizabeth E.Aff21, Aff22, Mancini, Grazia M. S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, MatiasAff25, Aff26, Wortmann, Saskia B.Aff27, Aff28, Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, SianAff31, Aff33, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, TarohAff37, Aff38, Campeau, Philippe M.Aff1, Murakami, YoshikoAff37, Aff38
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1873-1881
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7دورية أكاديمية
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8دورية أكاديمية
المؤلفون: Sen, Kuntal, Ananth, Amitha, Gottlieb-Smith, Rachel, Calalme, Daniel, Strelzik, Jeffrey, Baranano, Kristin, Emrick, Lisa, Ziobro, Julie, Habela, Christa, Ream, Margie, Mithal, Divakar, Gropman, Andrea, Dang, Louis
المصدر: In Genetics in Medicine Open 2024 2 Supplement 1
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.