Isis Atallah - Division of Genetic Medicine, Lausanne University Hospital

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论文共 29 篇作者统计合作学者相似作者

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Impact of Neurofibromatosis Type 1 on Quality of Life Using the Skindex-29 Questionnaire Quality of Life in Nf1

Ana M. Cieza Rivera, Carlos Lobato Fuertes,Tania Fernández-Villa,Vicente Martín Sánchez,Isis Atallah

Orphanet Journal of Rare Diseasesno. 1 (2024)

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Mosaic RASopathies Concept: Different Skin Lesions, Same Systemic Manifestations

Marie-Anne Morren,Heidi Fodstad,Hilde Brems,Nicola Bedoni,Emmanuella Guenova,Martine Jacot-Guillarmod,Kanetee Busiah,Fabienne Giuliano,Michel Gilliet,Isis Atallah

Journal of Medical Geneticspp.jmg-109306, (2024)

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Further Delineation of the Rare GDACCF (global Developmental Delay, Absent or Hypoplastic Corpus Callosum, Dysmorphic Facies Syndrome): Genotype and Phenotype of 22 Patients with ZNF148 Mutations

JOURNAL OF MEDICAL GENETICSno. 2 (2024): 132-141

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Primary Cutaneous T-cell Lymphoma Not Otherwise Specified (NOS) Uncovering a Novel RAB27A Variant in Griscelli Syndrome Type 2

Gabriela Blanchard,Isis Atallah,Maël Blanchard,Birgit Fehrenbacher,Martin Schaller,Orbicia Riccio, Claudia Ballerini,Fabio Candotti,Emmanuella Guenova

The British journal of dermatology (2024)

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Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants

Isis Atallah,Katarina Cisarova, Cecile Guenot,Estelle Dubruc,Andrea Superti-Furga,Belinda Campos-Xavier,Sheila Unger

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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Blunted Circadian Variation of Blood Pressure in Individuals with Neurofibromatosis Type 1

Ana M. Cieza Rivera,Tania Fernández-Villa,Vicente Martín,Isis Atallah

Orphanet Journal of Rare Diseasesno. 1 (2023): 1-7

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Prenatal Diagnosis of Gómez-López-Hernández Syndrome

Leo Pomar,Wawrzyniec Rieder,Estelle Dubruc,Fabienne Giuliano,Isis Atallah,Sebastien Lebon,Yvan Vial

FETAL DIAGNOSIS AND THERAPYno. 2 (2023): 92-97

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The Neurodevelopmental and Facial Phenotype in Individuals with a TRIP12 Variant

Mio Aerden,Anne-Sophie Denommé-Pichon,Dominique Bonneau,Ange-Line Bruel,Julian Delanne,Bénédicte Gérard,Benoît Mazel,Christophe Philippe,Lucile Pinson,Clément Prouteau,Audrey Putoux,Frédéric Tran Mau-Them,Éléonore Viora-Dupont,Antonio Vitobello,Alban Ziegler,Amélie Piton,Bertrand Isidor,Christine Francannet,Pierre-Yves Maillard,Sophie Julia,Anais Philippe,Elise Schaefer,Saskia Koene,Claudia Ruivenkamp,Mariette Hoffer,Eric Legius,Miel Theunis,Boris Keren,Julien Buratti,Perrine Charles,Thomas Courtin,Mala Misra-Isrie,Mieke van Haelst,Quinten Waisfisz,Dagmar Wieczorek,Ariane Schmetz,Theresia Herget,Fanny Kortüm,Jasmin Lisfeld,François-Guillaume Debray,Nuria C. Bramswig,Isis Atallah,Heidi Fodstad,Guillaume Jouret,Berta Almoguera,Saoud Tahsin-Swafiri,Fernando Santos-Simarro,Maria Palomares-Bralo,Vanesa López-González,Maria Kibaek,Pernille M. Tørring,Alessandra Renieri,Lucia Pia Bruno,Katrin Õunap,Monica Wojcik,Tzung-Chien Hsieh,Peter Krawitz,Hilde Van Esch

European journal of human genetics（2023）

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[Constitutional diseases of bone: clinical flags]

Anne-Cécile Debrach,Aline Brégou, Elena Gonzalez Rodriguez,Zagorka Pejin,Camille Kumps, Ailsa Craig,Despina Christina Pavlidou,Isis Atallah

Revue medicale suisseno. 823 (2023): 766-769

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