Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://u-paris.hal.science/hal-04087524 ; Acta Neuropathologica Communications, 2023, 11, pp.26. ⟨10.1186/s40478-023-01523-y⟩ ;

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Authors : Tauziède-Espariat, Arnault; Uro-Coste, Emmanuelle; Sievers, Philipp ...

Subjects: EP300; BCOR; Adult

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://u-paris.hal.science/hal-04087524 ; Acta Neuropathologica Communications, 2023, 11, pp.26. ⟨10.1186/s40478-023-01523-y⟩ ;

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing

Authors : Liserre, Roberto; Branzoli, Francesca; Pagani, Francesca ...

Subjects: Magnetic resonance spectroscopy (MRS); d-2-Hydroxyglutarate (2HG); Isocitrate dehydrogenase 1 and 2 mutation

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.sorbonne-universite.fr/hal-04515228 ; Acta Neuropathologica Communications, 2023, 11, ⟨10.1186/s40478-023-01531-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Authors : Tauziède-Espariat, Arnault; Uro-Coste, Emmanuelle; Sievers, Philipp ...

Subjects: EP300; BCOR; Adult

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://u-paris.hal.science/hal-04087524 ; Acta Neuropathologica Communications, 2023, 11, pp.26. ⟨10.1186/s40478-023-01523-y⟩ ;

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing

Authors : Liserre, Roberto; Branzoli, Francesca; Pagani, Francesca ...

Subjects: Magnetic resonance spectroscopy (MRS); d-2-Hydroxyglutarate (2HG); Isocitrate dehydrogenase 1 and 2 mutation

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.sorbonne-universite.fr/hal-04515228 ; Acta Neuropathologica Communications, 2023, 11, ⟨10.1186/s40478-023-01531-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Authors : Biancalana, Valérie; Rendu, John; Chaussenot, Annabelle ...

Subjects: Calcium; Congenital myopathy; Excitation–contraction coupling

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.science/hal-03613310 ; Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Authors : Biancalana, Valérie; Rendu, John; Chaussenot, Annabelle ...

Subjects: Calcium; Congenital myopathy; Excitation–contraction coupling

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.science/hal-03613310 ; Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Authors : Biancalana, Valérie; Rendu, John; Chaussenot, Annabelle ...

Subjects: Calcium; Congenital myopathy; Excitation–contraction coupling

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.science/hal-03613310 ; Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Authors : Biancalana, Valérie; Rendu, John; Chaussenot, Annabelle ...

Subjects: Calcium; Congenital myopathy; Excitation–contraction coupling

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.science/hal-03613310 ; Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

Academic Journal

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Authors : Biancalana, Valérie; Rendu, John; Chaussenot, Annabelle ...

Subjects: Calcium; Congenital myopathy; Excitation–contraction coupling

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.science/hal-03613310 ; Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي

نتائج البحث

فلترة النتائج

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

اتصل بنا

اتبع