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- [31] Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorderRespiratory Research, 24Laura Bergantini论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesMargherita Baldassarri论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesMiriana d’Alessandro论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesGiulia Brunelli论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesGaia Fabbri论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesKristina Zguro论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesAndrea Degl’Innocenti论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesChiara Fallerini论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesElena Bargagli论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical SciencesAlessandra Renieri论文数: 0 引用数: 0 h-index: 0机构: University Hospital of Siena (Azienda Ospedaliera Universitaria Senese,Respiratory Disease Unit, Department of Medical Sciences
- [32] Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorderRESPIRATORY RESEARCH, 2023, 24 (01)Bergantini, Laura论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy论文数: 引用数: h-index:机构:d'Alessandro, Miriana论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, ItalyBrunelli, Giulia论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy Univ Siena, Med Genet Unit, Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, I-53100 Siena, Italy Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, ItalyFabbri, Gaia论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Bargagli, Elena论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy Azienda Osped Univ Senese, Univ Hosp Siena, Dept Med Sci, Resp Dis Unit,AOUS,Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy论文数: 引用数: h-index:机构:
- [33] SLC12A6 gene: De novo variants cause dominant-intermediate Charcot-Marie-ToothEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 383 - 383Park, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyFlores, B.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Sch Med, Dept Anesthesiol, Nashville, TN 37212 USA Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyScherer, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Clin Rehabilitat Serv, Tucson, AZ USA Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyKuepper, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neuropediat, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyRossi, M.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Clin Genom, Aliso Viejo, CA USA Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyRupprich, K.论文数: 0 引用数: 0 h-index: 0机构: Essen Univ Hosp, Dept Neuropediat, Essen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyRautenberg, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyDeininger, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyWeichselbaum, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neuropediat, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyGrimm, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanySturm, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyGrasshoff, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyDelpire, E.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Sch Med, Dept Anesthesiol, Nashville, TN 37212 USA Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyHaack, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
- [34] A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGSJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2021, 32 (07): : 1682 - 1695Lane, Brandon M.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAMurray, Susan论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Dept Genet, Irish Kidney Gene Project, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USABenson, Katherine论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Sch Pharm & Biomol Sci, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA论文数: 引用数: h-index:机构:Chryst-Stangl, Megan论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAWang, Liming论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Med, Div Nephrol, Sch Med, Durham, NC USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAWu, Guanghong论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USACavalleri, Gianpiero论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Sch Pharm & Biomol Sci, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USADoyle, Brendan论文数: 0 引用数: 0 h-index: 0机构: Beaumont Gen Hosp, Dept Pathol, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAFennelly, Neil论文数: 0 引用数: 0 h-index: 0机构: Beaumont Gen Hosp, Dept Pathol, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USADorman, Anthony论文数: 0 引用数: 0 h-index: 0机构: Beaumont Gen Hosp, Dept Pathol, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAConlon, Shane论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Dept Genet, Irish Kidney Gene Project, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAVega-Warner, Virginia论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAFermin, Damian论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAVijayan, Poornima论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Med, Div Nephrol, Toronto, ON, Canada Toronto Gen Hosp, Toronto, ON, Canada Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA论文数: 引用数: h-index:机构:Shril, Shirlee论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Pediat, Div Nephrol, Boston, MA USA Harvard Univ, Med Sch, Boston, MA USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USABarua, Moumita论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Med, Div Nephrol, Toronto, ON, Canada Toronto Gen Hosp, Toronto, ON, Canada Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAHildebrandt, Friedhelm论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Pediat, Div Nephrol, Boston, MA USA Harvard Univ, Med Sch, Boston, MA USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAPollak, Martin论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Med Sch, Boston, MA USA Beth Israel Hosp, Dept Med, Div Nephrol, Boston, MA USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USAHowell, David论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Dept Pathol, Durham, NC 27706 USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USASampson, Matthew G.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Pediat, Div Nephrol, Boston, MA USA Harvard Univ, Med Sch, Boston, MA USA Broad Inst Harvard & MIT, Cambridge, MA USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA论文数: 引用数: h-index:机构:Conlon, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Dept Genet, Irish Kidney Gene Project, Dublin, Ireland Beaumont Gen Hosp, Dept Med, Div Nephrol, Dublin, Ireland Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USASpurney, Robert论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Med, Div Nephrol, Sch Med, Durham, NC USA Duke Univ, Duke Mol Physiol Inst, Dept Pediat, Div Nephrol,Sch Med, Durham, NC USA论文数: 引用数: h-index:机构:
- [35] A case of early-onset idiopathic chronic pancreatitis associated with a loss-of-function TRPV6 p.R483Q variant successfully treated by pancreatic duct stentingClinical Journal of Gastroenterology, 2023, 16 : 623 - 627Mizuki Goma论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyShin-ichiro Hagiwara论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyTamaki Wada论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyTakatoshi Maeyama论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyNobuhiko Okamoto论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyShuji Ishii论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyYuri Etani论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and EndocrinologyAtsushi Masamune论文数: 0 引用数: 0 h-index: 0机构: Osaka Women’s and Children’s Hospital,Department of Gastroenterology, Nutrition and Endocrinology
- [36] A case of early-onset idiopathic chronic pancreatitis associated with a loss-of-function TRPV6 p.R483Q variant successfully treated by pancreatic duct stentingCLINICAL JOURNAL OF GASTROENTEROLOGY, 2023, 16 (04) : 623 - 627Goma, Mizuki论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanHagiwara, Shin-ichiro论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanWada, Tamaki论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanMaeyama, Takatoshi论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanIshii, Shuji论文数: 0 引用数: 0 h-index: 0机构: Osaka Gen Med Ctr, Dept Gastroenterol & Hepatol, 3-1-56 Mandaihigashi,Sumiyoshi Ku, Osaka 5588558, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanEtani, Yuri论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanMasamune, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Div Gastroenterol, Grad Sch Med, 1-1 Seiryo Machi,Aoba Ku, Sendai 9808574, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan