全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Kathelijn Keymolen , Alex Michotte ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.
作者:Kathelijn Keymolen , Deborah Tamura ...
来源:[J].The American Journal of Human Genetics(IF 11.202), 2016, Vol.98 (4), pp.627-642Elsevier
摘要:The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (TFIIH). TFIIH harbors mutations in two rare genetic disorders, the cancer-prone...
作者:Kathelijn Keymolen , Katrijn L. Van Rompaey ...
来源:[J].European Journal of Paediatric Neurology(IF 1.982), 2014, Vol.18 (3), pp.420-426Elsevier
摘要:Abstract(#br)The FOXG1 syndrome is emerging as a relative new entity in paediatric neurology. We report a boy with acquired microcephaly, mental retardation and a thin genu of the corpus callosum. The combination of these findings led to mutation analysis of FOXG1 . The patient w...
作者:... Iris De Schutter , Kathelijn Keymolen , Yvan Vandenplas
来源:[J].Journal of Cystic Fibrosis(IF 2.873), 2016, Vol.15 (4), pp.540-547Elsevier
摘要:Abstract(#br)Background(#br)Gastro-oesophageal reflux (GOR) is common in patients with cystic fibrosis (CF). The aim of this study was to investigate the relationship between gastric emptying (GE) and GOR in children with CF.(#br)Methods(#br)Multichannel intraluminal impedance-pH...
作者:Kathelijn Keymolen , Johan de Mey ...
来源:[J].Hereditary Cancer in Clinical Practice, 2019, Vol.17 (1), pp.1-6DOAJ
摘要:Abstract Background Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. Affected patients develop central nervous system hemangioblastomas and abdominal tumors, among other lesions. Patients undergo an annual clinical screening program including s...
作者:Kathelijn Keymolen , Alex Michotte ...
来源:[J].2017, Vol.18 (1), pp.57BMC
摘要:Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. We report a case of a Caucasian female with complete pancreatic agenesis o...
作者:Kathelijn Keymolen , Chantal Ceuterick-de Groote ...
来源:[J].Neuromuscular Disorders(IF 3.464), 2006, Vol.16 (1), pp.19-25Elsevier
摘要:Abstract(#br)Congenital insensitivity to pain with anhidrosis or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is the first human genetic disorder implicated in the neurotrophin signal transduction pathway. HSAN IV is characterized by absence of reaction to noxiou...

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