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Mohamad   Maghnie

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) – University of Genova; Department of Paediatrics, IRCCS Istituto Giannina Gaslini

via Balbi 5

Genova, 16126

Italy

SCHOLARLY PAPERS

1

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Scholarly Papers (1)

1.

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

Genetics in Medicine (Forthcoming)
Number of pages: 40 Posted: 06 Oct 2021
1Department of Paediatric Endocrinology, Faculty of Medicine, Ondokuz Mayıs University; Department of Paediatric Endocrinology, Faculty of Medicine, Erciyes University, The Francis Crick Institute, 4Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, Hospital Infantil Universitario Niño Jesús, Departments of Paediatrics and Paediatric Endocrinology,, GOSgene, Genetics and Genomic Medicine, Research and Teaching Department, UCL Great Ormond Street Institute of Child Health; Department of Molecular Medicine and Pathology, University of Auckland, Genetics and Genomic Medicine, School of Medicine, Cardiff University, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health,, The Francis Crick Institute, Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health,, Hospital Infantil Universitario Niño Jesús, Departments of Paediatrics and Paediatric Endocrinology; Universidad Autónoma de Madrid, Department of Paediatrics; Instituto de Salud Carlos III, Centre of Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research; Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Department of Paediatric Endocrinology, Faculty of Medicine, Erciyes University, Department of Paediatric Endocrinology, Faculty of Medicine, Erciyes University, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, The Francis Crick Institute, Istituto Italiano di Tecnologia, University Children’s Hospital, Medical School,, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) – University of Genova, Centre of Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research; Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, Department of Endocrine Genetics, Research Centre for Medical Genetics, Ulitsa Moskvorechye; Department of Inherited Endocrine Disorders, Endocrinology Research Centre, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) – University of Genova; Department of Paediatrics, IRCCS Istituto Giannina Gaslini, University Children’s Hospital, Medical School, Oral and Maxillofacial Surgery, Genome and Stem Cell Center, Erciyes University, Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), The Francis Crick Institute, The Francis Crick Institute, Hospital Infantil Universitario Niño Jesús, Departments of Paediatrics and Paediatric Endocrinology; Universidad Autónoma de Madrid, Department of Paediatrics and Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children
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Abstract:

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Primary ovarian insufficiency, hypopituitarism, growth hormone deficiency, minor spliceosome, U12-type spliceosome