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.
205
days
Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability
Authors
Jingjing Zhang; Jing He; Hairui Pan; Dan Wang; Qinghua Zhang; Shengju Hao; Ling Hui; Chuan ZhangShow moreShow less
Affiliations
Medical 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, ChinaShow moreShow less
104
days
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature
Authors
Giulia Lauretti; Roberta Pietrobono; Benedetta Niccolini; Clarissa Modafferi; Maria Accadia; Ada Piepoli; Daniela Orteschi; Maria Grazia Pomponi; Pietro Chiurazzi; Maurizio Genuardi; Giovanni Neri; Elisabetta TabolacciShow moreShow less
Affiliations
UOC 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, ItalyShow moreShow less
97
days
Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin
Authors
Ayoung Park; Naye Choi; Tae-Joon Cho; Jung Min KoShow moreShow less
Affiliations
Department 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 KoreaShow moreShow less
204
days
Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy
Authors
Sarah Chamieh; Pauline Marzin; Sophie Achard; Pierre Blanc; Laurence Jonard; Saba Battelino; Katarina Trebusak; Margaux Serey-Gaut; Sandrine MarlinShow moreShow less
Affiliations
Service 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, FranceShow moreShow less
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