المؤلفون: Karayol, Remzi, Borroto, Maria, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann, Mulligan, Meghan, Bicknell, Louise, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin, Shashi, Vandana, Sullivan, Jennifer, Peron, Angela, Iascone, Maria, Canevini, Maria, Friedman, Jennifer, Reyes, Iris, Kierstein, Janell, Shen, Joseph, Ahmed, Faria, Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna, Monaghan, Kristin, Rousseau, Justine, Myers, Kenneth, Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe

المصدر: American Journal of Human Genetics. 111(7)

مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome, Adolescent, Child, Child, Preschool, Female, Humans, Male, Developmental Disabilities, DNA Methylation, Epigenesis, Genetic, Epilepsy, Histones, Induced Pluripotent Stem Cells, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, Ubiquitin-Protein Ligases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4qw4q94w
https://escholarship.org/content/qt4qw4q94w/qt4qw4q94w.pdf

المؤلفون: Adamo, Christin S, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R, Tufa, Sara F, Mörgelin, Matthias, Brinckmann, Jürgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muiño-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P, Gangaram, Balram, Tam, Allison, Balasubramanian, Meena, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W, Hayflick, Susan J, Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C, Sakai, Lynn Y, Sengle, Gerhard, Callewaert, Bert

المصدر: American journal of human genetics. 109(12)

مصطلحات موضوعية: Animals, Humans, Mice, Bone Diseases, Metabolic, Cutis Laxa, Collagen, Elastin, Extracellular Matrix Proteins, EFEMP2, EMILIN1, LOX, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture, Rare Diseases, Pediatric, Congenital Structural Anomalies, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8mv0r3gx

المؤلفون: Higa, Leigh Ann, Wardley, Jennifer, Wardley, Christopher, Singh, Susan, Foster, Timothy, Shen, Joseph J

المصدر: BMC Medical Genomics. 14(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Autism Spectrum Disorder, CNKSR2, CNK2, ESES, CSWS, Developmental delay, Medical Biochemistry and Metabolomics, Oncology and Carcinogenesis, Genetics & Heredity, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/68f912sx
https://escholarship.org/content/qt68f912sx/qt68f912sx.pdf

المؤلفون: Shen, Joseph, Huang, Alison, Deal, Jennifer, Chen, Honglei, Kucharska-Newton, Anna

المصدر: Innovation in Aging ; volume 8, issue Supplement_1, page 1259-1259 ; ISSN 2399-5300

الاتاحة: https://doi.org/10.1093/geroni/igae098.4027
https://academic.oup.com/innovateage/article-pdf/8/Supplement_1/1259/61314261/igae098.4027.pdf

المؤلفون: Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M.S., Marcos-Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Redon, Sylvia, Ros-Pardo, David, Rouault, Karen, Schot, Rachel, Schuhmann, Sarah, Shen, Joseph J., Tao, Alice M., Thiffault, Isabelle, Van Esch, Hilde, Wentzensen, Ingrid M., Barakat, Tahsin Stefan, Møller, Rikke S., Gomez-Puertas, Paulino, Chung, Wendy K., Gardella, Elena, Tümer, Zeynep

المصدر: Furia , F , Levy , A M , Theunis , M , Bamshad , M J , Bartos , M N , Bijlsma , E K , Brancati , F , Cejudo , L , Chong , J X , De Luca , C , Dean , S J , Egense , A , Goel , H , Guenzel , A J , Hüffmeier , U , Legius , E , Mancini , G M S , Marcos-Alcalde , I , Niclass , T , Planes , M , Redon , S , Ros-Pardo , D , Rouault ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/1f527f00-140b-4284-90d1-f46821546409
https://doi.org/10.1111/cge.14587
https://pure.eur.nl/ws/files/169694730/The_phenotypic_and_genotypic_spectrum_of_individuals_with_mono-_or_biallelic_ANK3_variants.pdf
http://www.scopus.com/inward/record.url?scp=85198127807&partnerID=8YFLogxK

المؤلفون: Guidugli, Lucia, Hammer, Monia, Cao, Bryant, Shen, Joseph, Rito, Daniel, Botsford, Claire, Chitayat, David, Lenberg, Jerica, Wigby, Kristen, Watkins, Kelly, Kingsmore, Stephen, Tokita, Mari

المصدر: Genetics in Medicine Open ; volume 2, page 101516 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101516
https://api.elsevier.com/content/article/PII:S2949774424006629?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424006629?httpAccept=text/plain

المؤلفون: Shen, Joseph J, Davis, Jessica L, Hong, Xinying, Laningham, Fred H, Gelb, Michael H, Kim, Grace E

المصدر: Journal of pediatric gastroenterology and nutrition. 71(6)

مصطلحات موضوعية: Humans, Cholesterol Ester Storage Disease, Wolman Disease, Female, Sterol Esterase, 2.1 Biological and endogenous factors, Aetiology, cholesterol ester storage disease, lysosomal acid lipase deficiency, LIPA gene, pathogenic variant, sebelipase alfa, variant of uncertain significance, Medical and Health Sciences, Gastroenterology & Hepatology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/22f5g8ch

المؤلفون: Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin, Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Štěrbová, Katalin, Hammer, Trine, Møller, Rikke, Shinde, Deepali, Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine, Haucke, Volker, Weber, Yvonne, Shen, Joseph

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Human Phenotype Ontology, clathrin-mediated endocytosis, computational phenotypes, developmental and epileptic encephalopathy, neurodevelopmental disorders, synaptic transmission, Adaptor Protein Complex 2, Adaptor Protein Complex mu Subunits, Adolescent, Animals, Brain Diseases, Child, Child, Preschool, Clathrin, Endocytosis, Epilepsy, Female, Humans, Infant, Mice, Mice, Knockout, Mutation, Missense, Neurodevelopmental Disorders, Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8945q735

المؤلفون: Carmichael, Jason, Vásquez Santos, Leoncio, Shen, Joseph

المصدر: Journal of Genetic Counseling. 27(4)

مصطلحات موضوعية: Genetic counseling, Immigrant population, Indigenous ancestry, Indigenous community, Indigenous languages, Mixtec people, Mixtecos, Multicultural genetic counseling, Oaxaca, Mexico, Traditional medicine beliefs, Underserved population, California, Emigrants and Immigrants, Farmers, Female, Genetic Counseling, Humans, Mexico, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7cx6b7mh
https://escholarship.org/content/qt7cx6b7mh/qt7cx6b7mh.pdf

المؤلفون: Yoon, Wan Hee, Sandoval, Hector, Nagarkar-Jaiswal, Sonal, Jaiswal, Manish, Yamamoto, Shinya, Haelterman, Nele A, Putluri, Nagireddy, Putluri, Vasanta, Sreekumar, Arun, Tos, Tulay, Aksoy, Ayse, Donti, Taraka, Graham, Brett H, Ohno, Mikiko, Nishi, Eiichiro, Hunter, Jill, Muzny, Donna M, Carmichael, Jason, Shen, Joseph, Arboleda, Valerie A, Nelson, Stanley F, Wangler, Michael F, Karaca, Ender, Lupski, James R, Bellen, Hugo J

المصدر: Neuron. 93(1)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Genetics, Animals, Autophagy, Drosophila, Drosophila Proteins, Drosophila melanogaster, Ketoglutarate Dehydrogenase Complex, Ketoglutaric Acids, Lysine, Mechanistic Target of Rapamycin Complex 1, Metalloendopeptidases, Mitochondria, Molecular Chaperones, Multiprotein Complexes, Neurodegenerative Diseases, TOR Serine-Threonine Kinases, DNAJA3, NRD1, OGDHL, TCA cycle, alpha-ketoglutarate, autophagy, metabolism, mitochondrial chaperones, rapamycin, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3vw9p28t

المؤلفون: Genetica, Genetica Klinische Genetica, Circulatory Health, Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau-Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman-Keemink, Yvonne, Hoffer, Mariette J.V., Lakeman, Inge M.M., Brischoux-Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., Scott, Daryl A.

URL: https://doi.org/10.1002/ajmg.a.63445
http://hdl.handle.net/1874/454490
https://dspace.library.uu.nl/handle/1874/454490
http://www.scopus.com/inward/record.url?scp=85174688922&partnerID=8YFLogxK
1552-4825
American Journal of Medical Genetics, Part A
194
3
e63445

المؤلفون: Staf strategisch beleid, Genetica Klinische Genetica, Child Health, Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A.van, Kroes, Hester Y., Stumpel, Constance T.R.M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, de Vries, Bert B.A., Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

URL: https://doi.org/10.1016/j.ajhg.2024.06.009
http://hdl.handle.net/1874/455092
https://dspace.library.uu.nl/handle/1874/455092
http://www.scopus.com/inward/record.url?scp=85198569996&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
111
8
1626
1642

المؤلفون: Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan

المصدر: European Journal of Human Genetics. 23(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Clinical Research, Rare Diseases, Adolescent, Adult, Child, Child, Preschool, Chromosome Aberrations, Consanguinity, Family, Female, Genes, Recessive, Genetic Association Studies, Genetic Predisposition to Disease, Homozygote, Humans, Incidence, Inflammatory Bowel Diseases, Male, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Young Adult, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5zs0k50h

المؤلفون: Shen, Joseph

المصدر: Clinical Dysmorphology. 24(2)

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Animals, Child, Child, Preschool, Craniofacial Abnormalities, Developmental Disabilities, Female, Hallux, Humans, Intellectual Disability, Nails, Malformed, Radiography, Seizures, Thumb

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2pq5g5w9

المؤلفون: Shen, J, Chen, Y, Zhang, T, Zhang, J, Choy, K, Wang, J, Wang, Q, Li, S, Zhou, W, Guo, J, Wang, Y, Zhang, C, Zhao, Hong, An, Yu, Zhao, Yu, Liu, Z, Zuo, Y, Tian, Y, Weng, X, Sutton, V, Wang, H, Ming, Y, Kulkarni, S, Zhong, T, Giampietro, P, Dunwoodie, S, Cheung, S, Zhang, X, Jin, L, Lupski, J, Qiu, G, Zhang, F, Wu, N, Ming, X, Xiao, J, Wu, Z, Chen, X, Shinawi, M, Shen, Y, Yu, G, Liu, J, Xie, H, Gucev, Z, Liu, S, Yang, N, Al-Kateb, H, Chen, J, Hauser, N, Tasic, V, Liu, P, Su, X, Pan, X, Liu, C, Wang, L, Shen, Joseph

المصدر: The New England Journal of Medicine. 372(4)

مصطلحات موضوعية: Adolescent, Asian People, Child, Child, Preschool, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Mutation, Pedigree, Phenotype, Radiography, Scoliosis, Sequence Deletion, Spine, T-Box Domain Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4v9775d7

المؤلفون: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J M, Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A, Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M A van, Kroes, Hester Y, Stumpel, Constance T R M, Ockeloen, Charlotte W, Diets, Illja J, Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H, McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E, Vera, Moin, Shen, Joseph J, Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N, Giltay, Jacques C, Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B A de, Motter, Constance S, Mendelsohn, Bryce A, Coffino, Samantha, Gerkes, Erica H, Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J, Rutten, Julie W, Caluseriu, Oana, Vernon, Hilary J, Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M E, Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G P, Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G, Vissers, Lisenka E L M, Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

المصدر: Rots , D , Choufani , S , Faundes , V , Dingemans , A J M , Joss , S , Foulds , N , Jones , E A , Stewart , S , Vasudevan , P , Dabir , T , Park , S-M , Jewell , R , Brown , N , Pais , L , Jacquemont , S , Jizi , K , Ravenswaaij-Arts , C M A V , Kroes , H Y , Stumpel , C T R M , Ockeloen , C W , Diets , I J , Nizon , M ....

الاتاحة: https://hdl.handle.net/11370/de531cb4-d1c8-41ce-ba05-8da2a9f2d12f
https://research.rug.nl/en/publications/de531cb4-d1c8-41ce-ba05-8da2a9f2d12f
https://doi.org/10.1016/j.ajhg.2024.06.009
http://Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

المؤلفون: Shen, Joseph J., Wortmann, Saskia B., de Boer, Lonneke, Kluijtmans, Leo A.J., Huigen, Marleen C.D.G., Koch, Johannes, Ross, Stephanie, Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D.M., Hegde, Madhuri R.

المصدر: Genetics in Medicine ; volume 23, issue 3, page 581-585 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-00996-9
https://www.nature.com/articles/s41436-020-00996-9.pdf
https://www.nature.com/articles/s41436-020-00996-9
https://api.elsevier.com/content/article/PII:S109836002104939X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002104939X?httpAccept=text/plain

المؤلفون: Shen, Joseph J., Wortmann, Saskia B., Kluijtmans, Leo A.J., Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D.M., Hegde, Madhuri R.

المصدر: Genetics in Medicine ; volume 23, issue 4, page 793-794 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-01055-z
http://www.nature.com/articles/s41436-020-01055-z.pdf
http://www.nature.com/articles/s41436-020-01055-z
https://api.elsevier.com/content/article/PII:S1098360021024643?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021024643?httpAccept=text/plain

المؤلفون: Fujii, Quinn S., Shen, Joseph J., Loomba, Lindsey A.

المصدر: Pediatrics in Review; Apr2024, Vol. 45 Issue 4, p234-238, 5p

المؤلفون: Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau‐Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman‐Keemink, Yvonne, Hoffer, Mariette J. V., Lakeman, Inge M. M., Brischoux‐Boucher, Elise, Kinali, Maria

المصدر: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-12, 12p