82 results on '"Tsurusaki, A."'
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2. Abstract 13900: Combined Use of Venoarterial Extracorporeal Menbrane Oxygenation and Impella Improves the Outcome in Patients With Cardiogenic Shock
3. Abstract 331: Impact Of Concomitant Use Of Veno-arterial Extracorporeal Membrane Oxygenation And Impella Support On Short-term Mortality In Acute Coronary Syndrome Patients With Refractory Cardiogenic Shock
4. POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
5. Magnetic Resonance Imaging of Recurrent Adult Granulosa Cell Tumor of the Ovary: A Retrospective Analysis of 11 Cases
6. Magnetic Resonance Imaging of Recurrent Adult Granulosa Cell Tumor of the Ovary: A Retrospective Analysis of 11 Cases
7. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma
8. SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
9. Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome
10. Oncostatin M causes liver fibrosis by regulating cooperation between hepatic stellate cells and macrophages in mice
11. Bone morphogenetic protein signaling governs biliary‐driven liver regeneration in zebrafish through tbx2b and id2a
12. Interaction between the stent strut and thrombus characterized by contrast-enhanced high-resolution cone beam CT during deployment of the Solitaire stent retriever
13. Semiquantitative prediction of early response of conventional transcatheter arterial chemoembolization for hepatocellular carcinoma using postprocedural plain cone‐beam computed tomography
14. De novo GABRA1 mutations in Ohtahara and West syndromes
15. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
16. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
17. Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome
18. De novo DNM1 mutations in two cases of epileptic encephalopathy
19. Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations
20. De novo KCNT1 mutations in early-onset epileptic encephalopathy
21. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
22. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders
23. Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
24. Superselective intra-arterial chemotherapy with concurrent radiotherapy for advanced parotid squamous cell carcinoma: a case report
25. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy
26. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy
27. Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE
28. Numerous BAF complex genes are mutated in Coffin–Siris syndrome
29. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation
30. Early onset epileptic encephalopathy caused by de novo SCN8A mutations
31. Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss
32. Coffin–Siris syndrome is a SWI/SNF complex disorder
33. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH
34. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
35. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma
36. PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
37. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome
38. De Novo Mutations in SLC35A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy
39. Continuous imaging of esophagogastric junction in patients with reflux esophagitis using 320-row area detector CT: A feasibility study
40. Co-occurrence of 22q11 deletion syndrome and hdr syndrome
41. MLL2 and KDM6A mutations in patients with Kabuki syndrome
42. A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter
43. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
44. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
45. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
46. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
47. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation
48. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients
49. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
50. KDM6A Point Mutations Cause Kabuki Syndrome
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