De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Autor: Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it., Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy., Theodorou E; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Briere LC; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Rosello M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Department of Epidemiology and Prevention, IRCCS NEUROMED, Pozzilli, Italy., Tammaro R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Al-Badri N; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Putti E; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Ferrante L; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Cetrangolo V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA., Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy., Iascone M; Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy., Mei D; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy., Guerrini R; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy., van der Smagt J; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center & King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Pingault V; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Ejaz R; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Zollino M; Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University of the Sacred Heart, Rome, Italy., Agrawal PB; Divisions of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Sweetser DA; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: dsweetser@mgh.harvard.edu., Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy; Medical Genetics, Department of Translational Medicine, University of Naples 'Federico II,' Via Sergio Pansini, 80131 Naples, Italy.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1377-1393. Date of Electronic Publication: 2023 Jul 13.

Imperforate submandibular duct presenting as feeding difficulties.

Autor: Al-Badri N; Service de Chirurgie Maxillo-Faciale et Stomatologie, Université de Lille, CHU de Lille, Lille, France albadrinour@gmail.com., Nicot R; Service de Chirurgie Maxillo-Faciale et Stomatologie, Université de Lille, CHU de Lille, Lille, France.; U1008 - Controlled Drug Delivery Systems and Biomaterials, INSERM, Lille, France., Touzet-Roumazeille S; Service de Chirurgie Maxillo-Faciale et Stomatologie, Université de Lille, CHU de Lille, Lille, France., Schlund M; Service de Chirurgie Maxillo-Faciale et Stomatologie, Université de Lille, CHU de Lille, Lille, France.; U1008 - Controlled Drug Delivery Systems and Biomaterials, INSERM, Lille, France.

Publikováno v: Archives of disease in childhood [Arch Dis Child] 2021 Apr; Vol. 106 (4), pp. 383. Date of Electronic Publication: 2020 Apr 22.

Structure of crown ethers.

Autor: El-Azhary, A. A., Al-Jallal, N., Al-Kahtani, A., Al-Badri, N., Al-Farhan, K., Al-Qunaibit, M.

Publikováno v: AIP Conference Proceedings; 6/22/2012, Vol. 1456 Issue 1, p223-228, 6p

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Application of additional three-dimensional materials for education in pediatric anatomy.

Autor: Youn, Joong Kee^1,2 (AUTHOR), Park, Han Sang¹ (AUTHOR), Ko, Dayoung¹ (AUTHOR), Yang, Hee-Beom³ (AUTHOR), Kim, Hyun-Young^1,2 (AUTHOR) spkhy02@snu.ac.kr, Yoon, Hyun Bae⁴ (AUTHOR)

Publikováno v: Scientific Reports. 6/20/2023, Vol. 13 Issue 1, p1-7. 7p.