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

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

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

المؤلفون: Kramer, Audra A., Bennett, Daniel F., Barañano, Kristin W., Bannister, Roger A.

المصدر: In eNeurologicalSci June 2023 31

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

المؤلفون: Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor^{Aff3, 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, Kristin^{Aff11, Aff12}, Ismail, Fatima Y.^{Aff12, Aff13}, Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet^{Aff17, Aff18}, Maki, Yuta^{Aff19, Aff20}, Sachdev, Rani^{Aff21, Aff22}, Macintosh, Rebecca, Palmer, Elizabeth E.^{Aff21, Aff22}, Mancini, Grazia M. S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias^{Aff25, Aff26}, Wortmann, Saskia B.^{Aff27, Aff28}, Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian^{Aff31, Aff33}, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh^{Aff37, Aff38}, Campeau, Philippe M.^Aff1, Murakami, Yoshiko^{Aff37, Aff38}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1873-1881

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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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