37 results on '"Proud, Virginia K."'
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2. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
3. Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features
4. Classification of the dysmorphology of pectus excavatum
5. Family study of the inheritance of pectus excavatum
6. HMG-CoA Lyase Deficiency
7. Polyhydramnios, Fetal Overgrowth, and Macrocephaly: Prenatal Ultrasound Findings of Costello Syndrome
8. Hardikar syndrome: New features
9. Additional EFNB1 Mutations in Craniofrontonasal Syndrome
10. Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
11. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
12. Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia
13. Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome
14. Bifid epiglottis and polydactyly: A new genetic syndrome
15. Avoiding Transmitting Identified Mutations to Offspring Using Preimplantation Genetic Diagnosis
16. AdditionalEFNB1mutations in craniofrontonasal syndrome
17. Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
18. Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics
19. Unique family with Townes-Brocks syndrome,SALL1 mutation, and cardiac defects
20. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation
21. Weaver syndrome: Autosomal dominant inheritance of the disorder
22. Developing INFOGENETICS: Experience Guiding Primary Care Providers to Access Medical Genetics Information Electronically in Clinic for Patient Care• 729
23. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review
24. Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
25. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
26. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
27. Medical students using Grateful Med: Analysis of failed searches and a six-month follow-up study
28. Advancing our understanding of the inheritance and transmission of pectus excavatum
29. Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels.
30. Additional EFNB1mutations in craniofrontonasal syndromeThis article is a US Government work and, as such, is in the public domain in the United States of America.How to cite this article: Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, AlTorki N, SiegelBartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. 2008. Additional EFNB1mutations in craniofrontonasal syndrome. Am J Med Genet Part A 146A:2008–2012.
31. Unique family with Townes-Brocks syndrome, <TOGGLE>SALL1</TOGGLE> mutation, and cardiac defects<FNR HREF="fn1">*</FNR><FN ID="fn1">Winn S. Surka and Juergen Kohlhase equally contributed to this work.</FN>
32. Biochemical changes in temperature-activated statoblasts of an ectoproct bryozoan
33. Message From a Multihandicapped Child
34. 763 THE CURRICULARIZATION OF McKUSICK: AN INNOVATION IN MEDICAL EDUCATION
35. Updating McKusick: An educational exercise for medical students
36. Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening Program
37. THE CUKRICULARIZATION OF McKUSICK
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