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american journal of medical genetics part c: seminars in medical genetics

IF
论文数13
被引数
期刊论文 14
发表时间
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Caring for Pediatric Clients With Arthrogryposis Multiplex Congenita: The Development of an Occupational Therapy Continuing Education Course为先天性多关节挛缩症患儿提供护理：一项作业治疗继续教育课程的发展
deleteamerican journal of medical genetics part c: seminars in medical genetics
IF0
delete2026-06-18
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PREAI
deleteAmy Sitabkhan; April Cowan; Amy Boyd; Scott Oishi
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Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric SurveillanceMyhre综合征中的精神病性特征：更广泛神经精神监测的证据
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-06-10
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deleteMariz Ebuen; Vasudevan Krishnan; Kathleen Irby; Ryan Monsberger; Rob J. Hopkin; Maggie R. Brand; Nora Friedman; Robyn P. Thom; Allan L. Reiss; Claudia Algaze; Jonathan A. Bernstein; Samantha Alexander; Valerie Cormier-Daire; Angela E. Lin; Suha Bachir
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The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological FindingsEXPLAIN研究：探索挪威成人中先天性多关节挛缩症——人口统计学、医学和神经学发现的描述
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-06-10
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deleteMy Vuong Hermansen; Kristin Ørstavik; Unni Steen; Mathias Toft; Cathrine Brunborg; Lena Lande Wekre
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Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench ResearchMyhre综合征的分子与发育基础的综述，实验室研究
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-06-10
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deleteCamille Viaut; Valerie Cormier-Daire
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A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine-Derived CellsERGIC1基因的新型剪接变异导致先天性多关节挛缩症—利用尿液来源细胞进行表征
deleteamerican journal of medical genetics part c: seminars in medical genetics
IF0
delete2026-05-15
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deleteLauren Kerr; Paul McKay; Juliana Marulanda; Zenghui Wu; Reggie Hamdy; Sena Tavukcu; Noémi Dahan-Oliel; Frank Rauch
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Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4Myhre综合征先天性畸形谱——通过SMAD4基因获得功能变异体探讨转化生长因子-β信号通路改变的影响
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-04-13
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deleteOAAI
deleteKawmadi Gunawardena; Alessandro De Falco; Deborah Osio; Eleanor Sherlock; Emma Kivuva; Erina Sasaki; Francis H. Sansbury; Nayana Lahiri; Patricia Foley; Sahar Mansour; Shane McKee; Tazeen Ashraf; Nicola Brunetti-Pierri; Usha Kini
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Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors先天性多关节挛缩症患儿的发展里程碑达成：发展特征及相关因素
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-03-16
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deleteAhlam Zidan; Sophia C. Pasia; Emmanouil Rampakakis; Reggie Hamdy; Frank Rauch; Lauren C. Hyer; Joel Lerman; Haluk Altiok; Krister Freese; Cary Mielke; Sarah B. Nossov; Philip F. Giampietro; Thania Ordaz-Robles; Noémi Dahan-Oliel
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Therapy for Myhre Syndrome: Goals, Misconceptions, and Current AgentsMyhre综合征的治疗：目标、误解和当前药物
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-03-16
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deleteAlessandro De Falco; Alfonso Manuel D'Alessio; Nicola Brunetti-Pierri
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Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype–Phenotype CorrelationMyhre综合征皮肤表现回顾：组织病理学分析与基因型-表型相关性
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-02-12
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deleteSetu Mittal; Emma F. Johnson; Lisa A. Schimmenti; Nessa Aghazadeh Mohandesi
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Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation揭示Myhre综合征的机制谱：SMAD4信号传导破坏、骨骼表型及转化创新
deleteamerican journal of medical genetics part c: seminars in medical genetics
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delete2026-02-08
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deleteMin Zhu; Fanyuan Zeng; Chu Zhu
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Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease导航Myhre综合征的药物发现：一种多系统性罕见病的复杂性
deleteAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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delete2025-11-03
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PREAI
deleteArmelle Pindon; Nicola Brunetti-Pierri; Kathy H. Young; Mary K. Young; Maria J. Macias; Xiulei Mo
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Comments From the Guest Editors客座编辑评论
deleteAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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delete2025-10-30
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deleteMelissa Crenshaw; Anne Skakkebæk
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Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality特纳综合征中的骨健康与青春期诱导：早期经皮低剂量雌二醇疗法实现健康骨密度和质量的可行性
deleteAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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delete2025-10-21
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deleteYukihiro Hasegawa; Kento Ikegawa; Takeshi Munenaga; Tomoyo Itonaga; Marie Mitani-Konno; Masanobu Kawai; Naoko Amano
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Evolution of Health Care in Turner Syndrome特纳综合征医疗保健的演变
deleteAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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delete2024-11-29
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PREAI
deleteClaus H. Gravholt; Philippe F. Backeljauw
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