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29 results on '"Morel, Godelieve"'

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1. Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)

5. Growth charts in Cockayne syndrome type 1 and type 2

6. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

7. First Description of a Large Clinical Series of Fetal Alcohol Spectrum Disorders Children and Adolescents in Reunion Island, France.

8. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

9. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

10. Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island

11. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

12. RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.

13. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

14. Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

16. Mosaicism detection and impact in eye development anomalies

17. Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability

18. First evidence ofSOX2mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

19. Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D

21. Mandibular‐pelvic‐patellar syndrome is a novel PITX1 ‐related disorder due to alteration of PITX1 transactivation ability

22. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

23. A new recognizable syndrome caused by mutations in the PITX1 gene

24. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

25. CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

26. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

27. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

28. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

29. A new mutation in the mitochondrial tRNA Pro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

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