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authFullName_s : Stéphanie Pannier

Soft tissue angiomatosis: another PIK3CA ‐related disorder

Olivia Boccara , Louise Galmiche-Rolland , Bérengère Dadone-Montaudié , Sonia Ariche-Maman , Florence Coulet et al.
Histopathology, 2019, ⟨10.1111/his.14021⟩
Journal articles hal-02387129v1

Thanatophoric dysplasia caused by double missense FGFR3 mutations

Stéphanie Pannier , Jelena Martinovic , Solange Heuertz , Anne-Lise Delezoide , Arnold Munnich et al.
American Journal of Medical Genetics Part A, 2009, 149A (6), pp.1296-1301. ⟨10.1002/ajmg.a.32880⟩
Journal articles istex hal-01193350v1

Efficacy of fascia iliaca nerve block in daily routine for children with femoral fractures in a pediatric emergency department

William Curtis , Stéphanie Pannier , Olivier Gall , Marie-Sophie Zentar , François Angoulvant et al.
Archives de Pédiatrie, 2021, 28 (7), pp.544-547. ⟨10.1016/j.arcped.2021.08.004⟩
Journal articles hal-03941311v1

Parkes‐Weber syndrome related to RASA1 mosaic mutation

Olivia Boccara , Mélanie Eyries , Stéphanie Pannier , Sonia Ariche-Maman , Smail Hadj-Rabia et al.
Clinical Genetics, 2020, ⟨10.1111/cge.13860⟩
Journal articles hal-03104647v1
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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Antoine Gardin , Martin Castelle , Samia Pichard , Aline Cano , Brigitte Chabrol et al.
Bone Marrow Transplantation, 2022, 58, pp.295 - 302. ⟨10.1038/s41409-022-01886-1⟩
Journal articles hal-04094846v1

One-stage circumferential limb ring constriction release and direct circular skin closure in amniotic band syndrome: a 14-case series

Benjamin Dufournier , Stéphane Guero , Marine de Tienda , Caroline Dana , Nicolas Garcelon et al.
Orthopaedics & Traumatology: Surgery & Research, 2020, 106 (7), pp.1353-1359. ⟨10.1016/j.otsr.2020.06.009⟩
Journal articles hal-03967475v1

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot , Thomas Blanc , Smail Hadj Rabia , Laureline Berteloot , Sophia Ladraa et al.
Nature, 2018, 558 (7711), pp.540 - 546. ⟨10.1038/s41586-018-0217-9⟩
Journal articles hal-01877949v1
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Management of ischiopagus twin separation with a focus on W–S incision design

François Ruiz , Cecilia Neiva-Vaz , Marie-Paule Vazquez , Jean-Baptiste Masson , Mohammed El Beheiry et al.
Journal of Pediatric Surgery Case Reports, 2023, 64, pp.101747. ⟨10.1016/j.epsc.2020.101747⟩
Journal articles pasteur-04008441v1
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Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency.

Harry Sokol , Nizar Mahlaoui , Claire Aguilar , Perrine Bach , Olivier Join-Lambert et al.
Journal of Allergy and Clinical Immunology, 2019, 143 (2), pp.1-10. ⟨10.1016/j.jaci.2018.09.021⟩
Journal articles hal-01913759v1
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One-stage circumferential limb ring constriction release and direct circular skin closure in amniotic band syndrome: a 14-case series

Benjamin Dufournier , Stéphane Guero , Marine de Tienda , Caroline Dana , Nicolas Garcelon et al.
Orthopaedics & Traumatology: Surgery & Research, 2020, 106, pp.1353 - 1359. ⟨10.1016/j.otsr.2020.06.009⟩
Journal articles hal-03492677v1
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Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.

Stéphanie Pannier , Vincent Couloigner , Nadia Messaddeq , Monique Elmaleh-Bergès , Arnold Munnich et al.
BBA - Biochimica et Biophysica Acta, 2009, 1792 (2), pp.140-7. ⟨10.1016/j.bbadis.2008.11.010⟩
Journal articles inserm-00370161v1