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Pediatric Dermatology|June 14, 2026
Cutis Tricolor-Like Pigmentary Mosaicism in Mowat-Wilson Syndrome: Phenotypic Overlap With Ruggieri-Happle SyndromeDidier Bessis, Pierre Meyer, Marjolaine WillemsHaematologica|August 23, 2006
Severe hematological side effects following Rituximab therapy in childrenSophie Larrar, Corinne Guitton, Marjolaine Willems, et al.Investigative Ophthalmology & Visual Science|August 4, 2022
Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital ConditionsMarjolaine Willems, Constance F Wells, Christine Coubes, et al.Journal of Cutaneous Pathology|April 16, 2016
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasiaEric Frouin, Benjamin Riviere, Olivier Maillet, et al.Acta Paediatrica (Oslo, Norway : 1992)|January 20, 2026
Bleeding Disorders in Children With Genetic Diseases: A Narrative ReviewRaphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, et al.Clinical Genetics|January 22, 2026
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental AnomaliesBertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, et al.Prenatal Diagnosis|December 13, 2016
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal originVictoria Viart, Marjolaine Willems, Aliya Ishmukhametova, et al.European Journal of Human Genetics : EJHG|September 23, 2025
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variantsMelek Trigui, Nathalie Pallares-Ruiz, David Geneviève, et al.Journal of Clinical Immunology|September 12, 2024
Abnormal Immune Profile in Individuals with Kabuki SyndromeMargot Comel, Norma Saad, Debapratim Sil, et al.Stem Cell Research|March 13, 2026
Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variantsMichele Bertacchi, Romain Desprat, Gaetan Lesca, et al.Pageof 12