29 results on '"Dentici, Maria L."'
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2. POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
3. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
4. POU3F3-related disorder:Defining the phenotype and expanding the molecular spectrum
5. Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH +) using DECIPHER data
6. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
7. Proximal variants inCCND2associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes
8. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations
9. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl
10. TUBB3 E410Ksyndrome: Case report and review of the clinical spectrum ofTUBB3mutations
11. Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum
12. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
13. POGZ‐related epilepsy: Case report and review of the literature
14. Expanding the clinical spectrum associated withPACS2mutations
15. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
16. First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder
17. Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome
18. Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization
19. Microduplications of ARID1Aand ARID1Bcause a novel clinical and epigenetic distinct BAFopathy
20. New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer
21. Hypopigmented skin patches in 17q21.31 microdeletion syndrome
22. New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
23. Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
24. A restricted spectrum of NRAS mutations causes Noonan syndrome
25. GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
26. Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
27. A restricted spectrum of NRAS mutations causes Noonan syndrome.
28. New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer
29. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
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