Browse Items (4 total)

Tags: 2004, Admiraal RJ, Adolescent, Adult, American Journal Of Medical Genetics.Part A, Backlog, Barth PG, Child, Cohort Studies, de Klerk JB, Developmental Disabilities/pathology, Duran M, Eye Diseases/pathology, Face/abnormalities, Female, Follow-up Studies, Gootjes J, Growth Disorders/pathology, Humans, Infant, Journal Article, Kidney/pathology, Liver/pathology, Male, Membrane Proteins/genetics, Mutation, Peroxisomal Disorders/genetics/mortality/pathology, Phenotype, Poll-The BT, Preschool, Q3 Scoping Review Results, Seizures/pathology, Spleen/pathology, Survival Rate, Time Factors, Wanders RJ, Waterham HR, Wenniger-Prick LJ

Tags: 2003, Adams S, American Journal Of Human Genetics, Amino Acid, Amino Acid Sequence, Animals, Arbour L, Atherton DJ, Backlog, Balci S, Base Sequence, Bode H, Campbell ME, DNA Primers, Douglas J, Family, Feingold M, Female, Fibroma/genetics, Futreal PA, Genetic Markers, Gingival Hypertrophy/genetics, Hanks S, Humans, In Situ Hybridization, Journal Article, Keser G, Kleijer W, Male, Mancini G, McGrath JA, Membrane Proteins/genetics, Molecular Sequence Data, Muntoni F, Mutation, Myofibromatosis/genetics, Nanda A, Non-U.S. Gov't, Pedigree, Pope FM, Rahman N, Research Support, Reverse Transcriptase Polymerase Chain Reaction, Sequence Alignment, Sequence Homology, Skin Neoplasms/genetics, Superti-Furga A, Teare MD, Warman M

Tags: 2003, American Journal Of Human Genetics, Amino Acid Sequence, Backlog, Base Sequence, Bonafe L, Child, Chromosome Mapping, Davis GE, Difeo A, Dowling O, Exons, Female, Fibroma/genetics, Focal/genetics, Genes, Genetic Markers, Glomerulosclerosis, Glucksman MJ, Grum-Tokars V, Humans, Infant, Journal Article, Kayserili H, Male, Martignetti JA, Martin GS, Membrane Proteins/genetics, Missense, Models, Molecular, Mutation, Narla G, Norton K, P.H.S., Paller AS, Pedigree, Protein Conformation, Protein Structure, Ramirez MC, Recessive, Research Support, Secondary, Syndrome, Teebi AS, Tukel T, U.S. Gov't, Yuksel-Apak M

Tags: 2001, Animal, Backlog, Child, Chromosome Mapping, Current Opinion in Neurology, Genetic, Genotype, Human, Infant, Journal Article, Membrane Proteins/genetics, Mitchison HM, Models, Mole SE, Neuronal Ceroid-Lipofuscinosis/diagnosis/genetics/therapy, Phenotype, Phosphoprotein Phosphatase/genetics, Proteins/genetics