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Myriam L. Rachid

LEF1 haploinsufficiency causes ectodermal dysplasia
2020 · Jonathan Lévy, Yline Capri, et al. · Clinical Genetics · 25
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
2021 · Jonathan Lévy, Guillaume Cogan, et al. · Clinical Genetics · 15
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion
2019 · Eloïse Giabicani, Sandra Chantot-Bastaraud, et al. · Frontiers in Endocrinology · 15
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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
2021 · Jonathan Lévy, Bérénice Schell, et al. · Clinical Genetics · 14
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Pitfalls in molecular diagnosis of Friedreich ataxia
2018 · Giulia Barcia, Myriam Rachid, et al. · European Journal of Medical Genetics · 11
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study
2019 · Matthieu Peycelon, Nathalie Lelong, et al. · The Journal of Urology · 8
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
2015 · Myriam L. Rachid, Sophie Dreux, et al. · Prenatal Diagnosis · 6
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
2017 · Myriam Rachid, Sophie Dreux, et al. · Annales de biologie clinique · 4
Expanding the phenotype of GTF2E2‐associated trichothiodystrophy
2023 · Brian Sperelakis‐Beedham, Lyse Ruaud, et al. · Journal of the European Academy of Dermatology and Venereology · 3
Fetal urine biochemistry in antenatal Bartter syndrome: a case report
2016 · Myriam L. Rachid, Sophie Dreux, et al. · Clinical Case Reports · 3
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Exploration des troubles du neurodéveloppement : caractérisation des anneaux du chromosome 22 chez des patients atteints du syndrome de Phelan-McDermid et implication des gènes des contactines dans les troubles du neurodéveloppement
2023 · Myriam Rachid · theses.fr (ABES)
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10q26 deletion syndrome: a French cohort study
2022 · Thorn, Hugo, Odent, Sylvie, et al. · HAL
Author response for "Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder"
2021 · Jonathan Lévy, Guillaume Cogan, et al. · Publons reviews and discussion
Author response for "EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder"
2021 · Jonathan Lévy, Bérénice Schell, et al. · Publons reviews and discussion
Author response for "EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder"
2021 · Jonathan Lévy, Bérénice Schell, et al. · Publons reviews and discussion
False Negative Results in Prenatal Aneuploidy Invasive Testing: Two Case Reports
2021 · Hamza A, Rachid M, et al. · Annals of Clinical and Medical Case Reports
Author response for "LEF1 haploinsufficiency causes ectodermal dysplasia"
2020 · J. Lévy, Y. Capri, et al. · Publons reviews and discussion
Author response for "LEF1 haploinsufficiency causes ectodermal dysplasia"
2020 · J. Lévy, Y. Capri, et al. · Publons reviews and discussion
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus
2019 · Séverine Bacrot, Sophie Monnot, et al. · Prenatal Diagnosis
Works count: 19
Citation count: 104
H-index: 6
I10-index: 5
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