المؤلفون: Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G, Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N, Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T, Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D, Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R, Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C, Link, Michael P, De Mola, Rebecca Loret, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L, MagimairajanIssai, Vanan, Maher, Ossama M, Massimino, Maura, McGee, Rose B, Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E, Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S

المصدر: Journal of Clinical Oncology. 39(25)

مصطلحات موضوعية: Cancer, Brain Disorders, Clinical Research, Digestive Diseases, Prevention, Brain Cancer, Rare Diseases, Adolescent, Adult, Brain Neoplasms, Child, Child, Preschool, Colorectal Neoplasms, DNA Mismatch Repair, DNA Repair Enzymes, Early Detection of Cancer, Female, Follow-Up Studies, Humans, Male, Neoplastic Syndromes, Hereditary, Population Surveillance, Prognosis, Prospective Studies, Survival Rate, United States, Young Adult, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7q63s84w

المؤلفون: Mistry, Pramod K, Lukina, Elena, Turkia, Hadhami Ben, Shankar, Suma P, Baris, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Gaemers, Sebastiaan JM, Tayag, Regina, Peterschmitt, M Judith

المصدر: American Journal of Hematology. 92(11)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Clinical Trials and Supportive Activities, Hematology, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Enzyme Inhibitors, Enzyme Replacement Therapy, Follow-Up Studies, Gaucher Disease, Glucosylceramidase, Humans, Liver, Organ Size, Pyrrolidines, Spleen, Treatment Outcome, Cardiorespiratory Medicine and Haematology, Immunology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3vt8j9ht

المؤلفون: Weiss, Karin, Ekhilevitch, Nina, Cohen, Lior, Bratman-Morag, Sharon, Bello, Rachel, Martinez, Ariel F., Hadid, Yarin, Shlush, Liran I., Kurolap, Alina, Paperna, Tamar, Mory, Adi, Baris, Hagit N., Muenke, Maximilian

المصدر: In European Journal of Medical Genetics February 2020 63(2)

المؤلفون: Mistry, Pramod K, Lukina, Elena, Turkia, Hadhami Ben, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Shankar, Suma, Solano, Maria Helena, Ross, Leorah, Angell, Jennifer, Peterschmitt, M Judith

المصدر: JAMA. 313(7)

مصطلحات موضوعية: Digestive Diseases, Clinical Trials and Supportive Activities, Hematology, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Administration, Oral, Adult, Double-Blind Method, Enzyme Inhibitors, Female, Gaucher Disease, Glucosyltransferases, Humans, Male, Organ Size, Pyrrolidines, Spleen, Splenomegaly, Young Adult, Medical and Health Sciences, General & Internal Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1pb8689v

المؤلفون: Maya, Idit, Singer, Amihood, Baris, Hagit N, Goldberg, Yael, Shalata, Adel, Khayat, Morad, Ben-Shachar, Shay, Sagi-Dain, Lena

المصدر: Journal of Perinatology; 20240101, Issue: Preprints p1-6, 6p

المؤلفون: Hayun, Michal, Zaatra, Maria^{Aff1, Aff2}, Itzkovich, Chen^{Aff1, Aff2}, Sahar, Dvora, Rosenberg, Dina, Filatova, Margarita, Ringelstein-Harlev, Shimrit^{Aff3, Aff4}, Baris, Hagit^{Aff1, Aff5}, Moustafa-Hawash, Nivin, Louria-Hayon, Igal, Ofran, Yishai^{Aff1, Aff2, Aff4}

المصدر: Scientific Reports. 10(1)

المؤلفون: Baris, Hagit N, Tan, Wen‐Hann, Kimonis, Virginia E, Irons, Mira B

المصدر: American Journal of Medical Genetics Part A, vol 143A. (21)

مصطلحات موضوعية: Pediatric, Health Services, Human Genome, Biotechnology, Genetics, Clinical Research, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Case-Control Studies, Child, Child, Preschool, Chromosome Aberrations, Developmental Disabilities, Female, Genome, Human, Humans, Infant, Infant, Newborn, Intellectual Disability, Male, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, chromosome aberrations, chromosome disorders, gene dosage, gene duplication, gene deletion, microarray comparative genomic hybridization, copy number variations, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2qb717dn

المؤلفون: Baris, Hagit, Bejjani, Bassem A, Tan, Wen‐Hann, Coulter, David L, Martin, Judith A, Storm, Andrea L, Burton, Barbara K, Saitta, Sulagna C, Gajecka, Marzena, Ballif, Blake C, Irons, Mira B, Shaffer, Lisa G, Kimonis, Virginia E

المصدر: American Journal of Medical Genetics Part A, vol 140A. (17)

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Child, Child, Preschool, Chromosomes, Human, Pair 2, Cytoskeletal Proteins, Developmental Disabilities, Female, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Membrane Proteins, Polymorphism, Genetic, Proteins, Speech Disorders, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5432s4df

المؤلفون: Sahai, Inderneel, Baris, Hagit, Kimonis, Virginia, Levy, Harvey L

المصدر: Journal of Child Neurology. 20(10)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Neurodegenerative, Multiple Sclerosis, Genetics, Autoimmune Disease, Neurosciences, Pediatric, Infant Mortality, Brain Disorders, Perinatal Period - Conditions Originating in Perinatal Period, Prevention, Aetiology, 2.1 Biological and endogenous factors, Fatal Outcome, Female, Genetic Predisposition to Disease, Humans, Infant, Newborn, Infant, Newborn, Diseases, Leukodystrophy, Globoid Cell, Magnetic Resonance Imaging, Pedigree, Severity of Illness Index, Tomography, X-Ray Computed, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7b48n8zp

المؤلفون: Baris, Hagit, Tan, Wen‐Hann, Kimonis, Virginia E

المصدر: American Journal of Medical Genetics Part A, vol 136A. (1)

مصطلحات موضوعية: Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4fp126v1