J. Filie

发表

Extrapolation of Adult Data and Other Data in Pediatric Drug-Development Programs

W. Rodriguez, M. Murphy, J. Dunne, 2011, Pediatrics.

Molecular Cloning, Characterization, and Genetic Mapping of the cDNA Coding for a Novel Secretory Protein of Mouse. DEMONSTRATION OF ALTERNATIVE SPLICING IN SKIN AND CARTILAGE (*)

C. Kozak, P. Tylzanowski, J. Merregaert, 1995, The Journal of Biological Chemistry.

Mouse gastric mucin: cloning and chromosomal localization.

C. Kozak, S. Ho, J. Filie, 1995, The Biochemical journal.

Genetic mapping of the mouse ferritin light chain gene and 11 pseudogenes on 11 mouse chromosomes

C. Kozak, J. Filie, C. Buckler, 1998, Mammalian Genome.

A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.

D. Grange, J. Marini, J. Filie, 1999, Molecular genetics and metabolism.

Differential expansion of the N-formylpeptide receptor gene cluster in human and mouse.

C. Kozak, P. Murphy, Ji-Liang Gao, 1998, Genomics.

Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.

H. Schumacher, M. Tsokos, G. Hoffman, 2010, Arthritis and rheumatism.

Genetic mapping of the α1 and α2 (IV) collagen genes to mouse Chromosome 8

C. Kozak, P. Burbelo, J. Filie, 1995, Mammalian Genome.

Murine chromosomal location of the mu and kappa opioid receptor genes.

C. Kozak, Y. Chen, J. Filie, 1994, Genomics.

Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary

J. Filie, Hylton V. Joffe, Sheila Farrell, 2021, Journal of inherited metabolic disease.

Murine Chromosomal Location of the μ and κ Opioid Receptor Genes

C. Kozak, Lei Yu, Yan Chen, 1994 .

A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband

J. Marini, J. Filie, B. Orrison, 1993, Human mutation.

A De Now W 1 + A Mutation at the &!(I) Exon I6 cDNA of One Allele of an 0 1 Type IV Proband plice Donor Site causes Skipping of Exon 16 in the

J. Marini, J. Filie, B. Orrison, 2005 .

Extrapolation of Adult Data and Other Data in Pediatric Drug-Development Programs

W. Rodriguez, M. Murphy, J. Dunne, 2011, Pediatrics.