نتائج البحث

Inequities in diagnosis of Fragile X syndrome in Colombia.

• Authors : Saldarriaga‐Gil, Wilmar¹ (AUTHOR) ; Cabal‐Herrera, Ana Maria¹ (AUTHOR); Fandiño‐Losada, Andrés¹ (AUTHOR)

• Source: Journal of Applied Research in Intellectual Disabilities. May2021, Vol. 34 Issue 3, p830-839. 10p.

تفاصيل العنوان

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.

• Authors : Ciobanu, Cristian-Gabriel¹ (AUTHOR) ; Nucă, Irina^1,2 (AUTHOR) ; Popescu, Roxana^1,3 (AUTHOR)

Subjects: *MOLECULAR diagnosis; *FRAGILE X syndrome; *SOUTHERN blot

• Source: International Journal of Molecular Sciences. Jun2023, Vol. 24 Issue 11, p9206. 16p.

تفاصيل العنوان

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome

• Authors : Cristian-Gabriel Ciobanu; Irina Nucă; Roxana Popescu

Subjects: fragile X syndrome; long read; methylation

• Source: International Journal of Molecular Sciences, Vol 24, Iss 11, p 9206 (2023)

تفاصيل العنوان

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.

• Authors : Fernández, Raquel M.^1,2; Peciña, Ana^1,2; Lozano-Arana, Maria Dolores¹

• Source: BioMed Research International. 12/2/2015, Vol. 2015, p1-6. 6p.

تفاصيل العنوان

Síndrome de X Frágil en niños.

• Authors : Acero-Garcés, David O.¹; Saldarriaga, Wilmar^1,2 ; Cabal-Herrera, Ana M.³

• Source: Colombia Medica. 2023, Vol. 54 Issue 2, p1-22. 22p.

تفاصيل العنوان

Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan.

• Authors : Kanwal, Madiha¹; Alyas, Saadia¹; Afzal, Muhammad¹

Subjects: *DIAGNOSIS of fragile X syndrome; *MOLECULAR diagnosis; *INTELLECTUAL disabilitiesPAKISTAN

• Source: PLoS ONE. Apr2015, Vol. 10 Issue 4, p1-11. 11p.

تفاصيل العنوان

Advanced technologies for the molecular diagnosis of fragile X syndrome

• Authors : Tassone, Flora

Subjects: Genetics; Brain Disorders; Behavioral and Social Science

• Source: Expert Review of Molecular Diagnostics. 15(11)

تفاصيل العنوان

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

• Authors : Juan Pozo-Palacios; Arianne Llamos-Paneque; Christian Rivas

Subjects: dynamic mutation diseases; fragile X syndrome; FMR1

• Source: Frontiers in Psychiatry, Vol 12 (2021)

تفاصيل العنوان

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.

• Authors : Du, Xiaoli¹; Glass, Jennifer Elaine¹; Balow, Stephanie^1,2

• Source: Journal of Autism & Developmental Disorders. Nov2022, Vol. 52 Issue 11, p4828-4842. 15p. 3 Diagrams, 2 Charts, 2 Graphs.

تفاصيل العنوان

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.

• Authors : Leibowitz, Ruth¹ ; Lewis, Sharon^2,3; Emery, Jon⁴

• Source: Australian Journal of Primary Health. 2022, Vol. 28 Issue 6, p580-587. 8p.

تفاصيل العنوان