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American Journal of Medical Genetics Part C-Seminars in Medical Genetics cover

American Journal of Medical Genetics Part C-Seminars in Medical Genetics

IF4.4
Papers93
Citations3198
Journal Papers 108
Publication Date
Pain and Health: Sex-Specific Differences From a Survey Study of Adults With Arthrogryposis Multiplex Congenita
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deleteJaclyn Megan Sions; Maureen Donohoe; Claire Elizabeth Vallery; Samantha Jeanne Stauffer; Ryan Todd Pohlig
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Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita
delete2026-08-17
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deleteAlicia Mom; Véronique Bourg; Shenhao Dai; Alicia-Marine Milot; Dominic Perennou; Klaus Dieterich
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Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
delete2026-08-17
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deleteJeanette Saffir; Karee Morgan; Karigynn Chaimson; Blake E. Funke; Kim L. Sandler; Melissa Hogan; Thomas Cassini
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CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders
delete2026-01-01
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deleteFarid, Tahsin; Ruzhnikov, Maura R. Z.; Duggal, Mili; Tumas, Keyla C.; Strongin, Shira; Sid, Eric; Fuchs, Sarah R.; Sacks, Leonard; Pichard, Dominique C.; Pilgrim-Grayson, Catherine; Mathe, Ewy A.; Stone, Heather A.
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Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review
delete2025-12-01
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deleteBrand, Maggie R.; Vanbelleghem, Eva; Kay, Alison C.; Goriely, Anne; Demir, Senol; Hulick, Peter J.; Prindeville, Breanne; Wong, Ashley W.; Callewaert, Bert; Lin, Angela E.
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Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies
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deleteChen, Yiyao; Gao, Li; Han, Xu; Cao, Yunyun; Zhang, Lanlan; Wu, Yi; Zhao, Xinrong; Hu, Wenjing; Ma, Ruiyu; Hua, Renyi; Li, Niu; Wang, Yanlin; Wang, Jian; Li, Shuyuan
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Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology
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deleteDannheim, Katelyn; Eilers, Grant; Page, Nathan C.; Garg, Shipra; Anderson, Kelsie; Colglazier, Elizabeth; Parker, Claire; Teitel, David F.; Sanchez, Henry C.; Sidebottom, Ryan; Abbott, Brandon; Knoll, Jasmine L.; Brand, Maggie R.; Mou, Hongmei; Lindsay, Mark E.; Lin, Angela E.
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Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data
delete2025-11-01
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deleteYoung, Mary K.; Pindon, Armelle; Brand, Maggie R.; Wears, Kate; Young, Katherine H.; Mendel, Alyssa; Lyons, Michael J.
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Targeted Therapies in Neurofibromatosis Type 1
delete2025-09-01
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deleteSato, Aimee A.; Earl, Dawn; Wallace, Stephanie E.
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Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome
delete2025-08-17
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deleteHyoungjun Sim; Forrest Wilke; Emily Hamburger; Charlie J. Sang III; Clara Hildebrandt
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Journaling for Parents and Adults With Myhre Syndrome: Using Reflective Writing to Help Cope
delete2025-07-20
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deleteRachel Gottlieb; Ashley W. Wong; Allison L. Cirino; Eleanor R. Scimone; Angela E. Lin
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The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis
delete2025-06-25
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deleteFrancisco Álvarez-Nava; Melissa L. Crenshaw; Ivonne Bedei; Marisol Soto; Andréa T. Maciel-Guerra; Anne Skakkebæk
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Research Review of Myhre Syndrome
delete2025-06-06
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deleteMaggie R. Brand; Ryan Monsberger; Robert J. Hopkin; Angela E. Lin
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