26 results on '"Parisi, Melissa A."'
Search Results
2. When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective
3. Gene‐targeted therapies: Overview and implications
4. Are we prepared to deliver gene‐targeted therapies for rare diseases?
5. Newborn screening research sponsored by the NIH : From diagnostic paradigms to precision therapeutics
6. Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis
7. Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals
8. Healthcare recommendations for Joubert syndrome
9. Ambiguous genitalia: What prenatal genetic testing is practical?
10. We don't know what we don't study: The case for research on medication effects in pregnancy
11. Fanconi anemia‐like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene
12. Clinical and molecular features of Joubert syndrome and related disorders
13. Cilia and the ciliopathies: An introduction
14. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: Phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?
15. Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene
16. Response to Wieczorek and Gillessen‐Kaesbach letter addressing “A Novel Oculo‐Oto‐Facial Dysplasia in a Native Alaskan Community With Autosomal Recessive Inheritance”
17. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies
18. A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance
19. Craniofacial defects of blastogenesis: Duplication of pituitary with cleft palate and orophgaryngeal tumors
20. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
21. Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
22. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
23. Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
24. Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: A distinct syndrome?
25. Hydrocephalus and intestinal aganglionosis: IsL1CAMa modifier gene in Hirschsprung disease?
26. Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.