المؤلفون: Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan RS

المصدر: Genetics in Medicine. 23(12)

مصطلحات موضوعية: Clinical Trials and Supportive Activities, Clinical Research, Pediatric, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Decent Work and Economic Growth, Achondroplasia, Child, Double-Blind Method, Humans, Natriuretic Peptide, C-Type, Treatment Outcome, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1h86w5fs

المؤلفون: Savarirayan, Ravi ^*, Wilcox, William R, Harmatz, Paul, Phillips, John, III, Polgreen, Lynda E, Tofts, Louise, Ozono, Keiichi, Arundel, Paul, Irving, Melita, Bacino, Carlos A, Basel, Donald, Bober, Michael B, Charrow, Joel, Mochizuki, Hiroshi, Kotani, Yumiko, Saal, Howard M, Army, Clare, Jeha, George, Qi, Yulan, Han, Lynn, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan

المصدر: In The Lancet Child & Adolescent Health January 2024 8(1):40-50

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المؤلفون: Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschmeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane, Saal, Howard M, Leiva-Gea, Antonio, Luna-Gonzáles, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan

المصدر: Journal of the Endocrine Society. 4(Suppl 1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3b3920wp

المؤلفون: Russell, Bianca E, Rigueur, Diana, Weaver, Kathryn N, Sund, Kristen, Basil, Janet S, Hufnagel, Robert B, Prows, Cynthia A, Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M, Lyons, Karen, Dauber, Andrew

المصدر: Molecular Genetics & Genomic Medicine. 7(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Cardiovascular, Pediatric, Congenital Structural Anomalies, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Adult, Bone Diseases, Developmental, Bone Morphogenetic Protein Receptors, Type I, Cartilage, Craniofacial Abnormalities, Developmental Disabilities, Female, Homozygote, Humans, Infant, Intestinal Polyposis, Male, Muscular Atrophy, Mutation, Missense, Neoplastic Syndromes, Hereditary, Pedigree, Phenotype, Prognosis, atrial septal defect, BMP, bmpr1a protein, bone morphogenetic protein, human, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/634681f4

المؤلفون: Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA

المصدر: European Journal of Human Genetics. 24(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Neurosciences, Congenital Structural Anomalies, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 17, Female, Humans, Intellectual Disability, Male, Middle Aged, Nuclear Proteins, Phenotype, Polymorphism, Single Nucleotide, DDD Study, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6bw6150r

المؤلفون: Padidela, Raja^Aff1, Yates, Robert, Benscoter, Dan, McPhail, Gary, Chan, Elaine, Nichani, Jaya, Mughal, M. Zulf, Myer, IV, Charles, Narayan, Omendra, Nissenbaum, Claire, Wilkinson, Stuart, Zhou, Shanggen, Saal, Howard M.

المصدر: Orphanet Journal of Rare Diseases. 15(1)

المؤلفون: Saal, Howard M.

المصدر: In Facial Plastic Surgery Clinics of North America November 2016 24(4):405-425

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المؤلفون: Basil, Janet S., Santoro, Stephanie L., Martin, Lisa J., Healy, Katherine Wusik, Chini, Barbara A., Saal, Howard M.

المصدر: In The Journal of Pediatrics June 2016 173:143-148