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「"Grinberg D "[Author]」の検索結果

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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

A tensed Tendyne.

Influence of trends in hospital volume over time on patient outcomes for high-risk surgery.

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.

Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

Mitral valve repair based on physical characterization of coaptation forces.

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Incidence, predictors and clinical impact of electrical storm in patients with left ventricular assist devices: new insights from the ASSIST-ICD study.

Minithoracotomy and Beating Heart Strategy for Mitral Surgery in Secondary Mitral Regurgitation.

Risk factors and prognostic impact of left ventricular assist device-associated infections.

Cardiopulmonary Bypass Priming with Hydroxyethyl Starch 6% 130/0.4 or Sodium Chloride 0.9%: A Preliminary Double-Blind Randomized Controlled Study in Cardiac Surgery.

Percutaneous Repair for Secondary Mitral Regurgitation. Reply.

Mechanical failure of plate breakage after open reduction and plate fixation of displaced midshaft clavicle fracture - a possible new risk factor: a case report.

Bone development and remodeling in metabolic disorders.

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