Paper Review Records
All Paper Review Records
10 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF)
AuthorsElis Riin Tars-Hurt; Mare Lintrop; Riina Zordania; Laura Mauring; Ülle Murumets; Imbi Kuus; Katrin Õunap
AffiliationsGenetics and Personalized Medicine Clinic, Tartu University Hospital, Estonia; Institute of Clinical Medicine, University of Tartu, Estonia; Radiology Clinic, Tartu University Hospital, Estonia; Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; Eye Clinic, Tartu University Hospital, Estonia
Spontaneous splenic rupture and uterine serosal bleeding at 26 Weeks in COL3A1-related vascular Ehlers–Danlos syndrome
AuthorsZihan Liu; Xiangzhi Fang; Azhen Wang; Peng Xu; Yuan Yin; Ruiting Li; Chaolin Huang; Limin Duan; Hong Qi
AffiliationsWuhan Jinyintan Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Clinical Research Center for Infectious Diseases, Wuhan Research Center for Communicable Disease Diagnosis and Treatment, Chinese Academy of Medical Sciences, Joint Laboratory of Infectious Diseases and Health, Wuhan Institute of Virology and Wuhan Jinyintan Hospital, Chinese Academy of Sciences, Wuhan, 430023, China; Department of Critical Care Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Department of Emergency Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China
WLS-related Zaki syndrome: New clinical features and evidence for p.(Tyr478Cys) variant as a possible mutational hotspot
AuthorsNaeim Ehtesham; Mahta Mazaheri; Zahra Sadr; Mahdieh Yavari; Hossein Ahrar
AffiliationsAriyogene Medical Genetics Laboratory, Yasuj, Iran; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Dr. Mazaheri's Medical Genetics Laboratory, Yazd, Iran; Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Radiology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Exploring national support mechanisms for European reference network centres
AuthorsVojtěch Šimka; Jana Jedličková; Nela Navrátilová; Ondřej Hynek; Valentina Sand; Mari Murel; Alberto M. Pereira; Pavla Doležalová; Franz Schaefer
AffiliationsCentre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic; Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany; Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands
Neurofibromatosis type 1 in Brazil: Pediatric care in the Unified Health System
AuthorsViviane Sonaglio; Gabriela Oigman Bellas; Eliana Maria Monteiro Caran; Carina Buzzo de Lima Decario; Amaury Pinfildi de Freitas Bunho; Mauricio Longato; Guilherme Cordeiro; Luiz Guilherme Darrigo Junior; Mauro Geller
AffiliationsA.C.Camargo Cancer Center, Department of Pediatric Oncology, São Paulo, Brazil; José Alencar Gomes da Silva National Cancer Institute (INCA), Department of Pediatrics, Rio de Janeiro, Brazil; Pediatric Oncology Institute (IOP/GRAACC), Federal University of São Paulo (UNIFESP), São Paulo, Brazil; AstraZeneca, Medical Department, São Paulo, Brazil; ICON Strategic Solutions, São Paulo, Brazil; Nodian, São Paulo, Brazil; University of São Paulo (USP), Ribeirão Preto Medical School, Ribeirão Preto, Brazil; Carlos Chagas Post-Graduate Medical Institute (IPGMCC), Rio de Janeiro, RJ, Brazil; National Center for Neurofibromatosis (CNNF), Rio de Janeiro, RJ, Brazil; Centro Universitario Serra dos Orgaos (UNIFESO), Teresopolis, RJ, Brazil
Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia
AuthorsEriko Hatai; Yuri Sonoda; Motoshi Sonoda; Kei Nishiyama; Yusaku Nagatomo; Shinya Suematsu; Atsuhisa Fukuta; Pin Fee Chong; Hiroshi Hamada; Noriyuki Kaku; Yuichiro Hirata; Hazumu Nagata; Kenichiro Yamamura; Shuichi Yatsuga; Hiroyuki Mishima; Koh-ichiro Yoshiura; Yoshinao Oda; Tatsuro Tajiri; Shouichi Ohga; Yasunari Sakai
AffiliationsDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Emergency and Critical Care Center, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatrics, Faculty of Medicine, Fukuoka University, Fukuoka, Japan; Department of Human Genetics, Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability
AuthorsJingjing Zhang; Jing He; Hairui Pan; Dan Wang; Qinghua Zhang; Shengju Hao; Ling Hui; Chuan Zhang
AffiliationsMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)/Gansu Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, 730000, China; Gansu Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection, Lanzhou, Gansu, 730000, China
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature
AuthorsGiulia Lauretti; Roberta Pietrobono; Benedetta Niccolini; Clarissa Modafferi; Maria Accadia; Ada Piepoli; Daniela Orteschi; Maria Grazia Pomponi; Pietro Chiurazzi; Maurizio Genuardi; Giovanni Neri; Elisabetta Tabolacci
AffiliationsUOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy; Medical Genetics Service, Hospital Cardinale G. Panico, Tricase, 73039, Italy; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Italy
Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin
AuthorsAyoung Park; Naye Choi; Tae-Joon Cho; Jung Min Ko
AffiliationsDepartment of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, South Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea; Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea; Center for Rare Diseases, Seoul National University Hospital, Seoul, South Korea
Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy
AuthorsSarah Chamieh; Pauline Marzin; Sophie Achard; Pierre Blanc; Laurence Jonard; Saba Battelino; Katarina Trebusak; Margaux Serey-Gaut; Sandrine Marlin
AffiliationsService de Médecine Génomique des maladies rares, Hôpital Necker Enfants Malades, AP-HP Centre Université de Paris, Paris, 75015, France; CRMR Surdités Génétiques, Service de Médecine Génomique des maladies rares, Hôpital Necker Enfants Malades, AP-HP Centre Université de Paris, Paris, 75015, France; Service d'ORL Pédiatrique et de Chirurgie Cervico-Faciale, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, 75015, France; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, 75014, France; UF Développement et morphogénèse, Fédération de Génétique et médecine génomique, Service de Médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France; Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia; Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, 1000, Slovenia; Centre de recherche en Audiologie, Hôpital Necker Enfants Malades, AP-HP, Paris, 75015, France; Genetics of rare Ophthalmological, auditory and mitochondrial disorders, Institut Imagine, Inserm U1163, Université Paris Cité, Paris, France
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