المؤلفون: Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith

المصدر: Indian Journal of Dermatology, Vol 62, Iss 4, Pp 422-426 (2017)

مصطلحات موضوعية: Cysts, keratin, keratin mutation, nail dystrophy, pachyonychia congenita, palmoplantar keratoderma, plantar pain, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2017;volume=62;issue=4;spage=422;epage=426;aulast=Agarwala; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611

URL الوصول: https://doaj.org/article/5ad5819a6ab04cab8722c9995bc99a0e

المؤلفون: Olivier Duverger, Jenna C Carlson, Chelsea M Karacz, Mary E Schwartz, Michael A Cross, Mary L Marazita, John R Shaffer, Maria I Morasso

المصدر: PLoS Genetics, Vol 15, Iss 6, p e1008230 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d345cffb5251427d8bdc60886e718847

المؤلفون: Olivier Duverger, Jenna C Carlson, Chelsea M Karacz, Mary E Schwartz, Michael A Cross, Mary L Marazita, John R Shaffer, Maria I Morasso

المصدر: PLoS Genetics, Vol 14, Iss 1, p e1007168 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5794186?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/bf0a59d5a8744cc9b3dcea50b5834f4d

المؤلفون: Manoj Kumar Agarwala, Mary E Schwartz, Frances J D Smith

المصدر: Indian Journal of Dermatology, Vol 61, Iss 5, Pp 567-567 (2016)

مصطلحات موضوعية: Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=5;spage=567;epage=567;aulast=Agarwala; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611

URL الوصول: https://doaj.org/article/a88716ccde8541838f2ba6fd73ed5c3c

المؤلفون: Michelle Salemi, David M. Rocke, Brett S. Phinney, Mary E. Schwartz, Blythe Durbin-Johnson, Robert H. Rice

المصدر: Journal of Proteomics. 165:132-137

مصطلحات موضوعية: Proteomics, 0301 basic medicine, Biochemistry & Molecular Biology, Pathology, medicine.medical_specialty, Proteome, Biophysics, Plant Biology, Shotgun, Biology, Biochemistry, Article, Human plantar callus, Analytical Chemistry, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Tandem Mass Spectrometry, Keratin mutations, Keratin, medicine, Humans, 2.1 Biological and endogenous factors, Pachyonychia congenita, Bony Callus, Aetiology, chemistry.chemical_classification, Foot, Proteomic Profiling, Pain Research, Anatomy, medicine.disease, Control subjects, Phenotype, Treatment efficacy, 030104 developmental biology, chemistry, Pachyonychia Congenita, Callus, Mutation, Keratins, Biochemistry and Cell Biology, Epidermis, Chronic Pain

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bda16e994cd5ea99139c2d2c7f241222
https://doi.org/10.1016/j.jprot.2017.06.017

المؤلفون: Neil J. Wilson, Frances J.D. Smith, Manoj Kumar Agarwala, Dincy Peter, Susanne Pulimood, Pankaj Salphale, Mary E. Schwartz

المصدر: Indian Journal of Dermatology, Vol 62, Iss 4, Pp 422-426 (2017)
Indian Journal of Dermatology

مصطلحات موضوعية: 0301 basic medicine, Natal Teeth, medicine.medical_specialty, Pathology, congenital, hereditary, and neonatal diseases and abnormalities, Case Report, Dermatology, medicine.disease_cause, Keratin 17, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Keratin, medicine, lcsh:Dermatology, Pachyonychia congenita, skin and connective tissue diseases, keratin, Genetic testing, chemistry.chemical_classification, nail dystrophy, Mutation, medicine.diagnostic_test, business.industry, Hyperhidrosis, Cysts, plantar pain, keratin mutation, palmoplantar keratoderma, lcsh:RL1-803, medicine.disease, 030104 developmental biology, Palmoplantar keratoderma, pachyonychia congenita, chemistry, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3312c15224de96093c9bc03b91503070
http://www.e-ijd.org/article.asp?issn=0019-5154;year=2017;volume=62;issue=4;spage=422;epage=426;aulast=Agarwala

المؤلفون: Neil J. Wilson, Frances J.D. Smith, Anup Kumar Tiwary, Mary E. Schwartz

المصدر: Indian Journal of Dermatology, Venereology and Leprology, Vol 83, Iss 1, Pp 95-98 (2017)

مصطلحات موضوعية: Genetics, Infectious Diseases, business.industry, Mutation (genetic algorithm), lcsh:Dermatology, Medicine, Pachyonychia congenita, Dermatology, lcsh:RL1-803, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f576a04f581fbcd157d94371bd4fdb9
http://www.ijdvl.com/article.asp?issn=0378-6323;year=2017;volume=83;issue=1;spage=95;epage=98;aulast=Tiwary

المؤلفون: Olivier Duverger, Jenna C. Carlson, Chelsea M. Karacz, Mary E. Schwartz, Michael A. Cross, Mary L. Marazita, John R. Shaffer, Maria I. Morasso

المصدر: PLoS Genetics, Vol 15, Iss 6, p e1008230 (2019)
PLoS Genetics

مصطلحات موضوعية: Adult, Male, Cancer Research, Dental Caries, QH426-470, Polymorphism, Single Nucleotide, Mice, Gene Frequency, Genetics, Animals, Humans, Genetic Predisposition to Disease, Tooth Erosion, Child, Dental Enamel, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Cells, Cultured, Keratin-6, Correction, Middle Aged, Rats, Amino Acid Substitution, Pachyonychia Congenita, Keratins, Female, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54635436fe9679512b2ee07bc46c50a
https://doaj.org/article/d345cffb5251427d8bdc60886e718847

المؤلفون: Elizabeth J. Horn, Mary E. Schwartz, Dana E. Gold, Sharon F. Terry, Kelly Edwards, Suzanne D. Vernon, Molly Stuart

المصدر: Biopreservation and Biobanking. 14:314-318

مصطلحات موضوعية: 0301 basic medicine, business.industry, Medicine (miscellaneous), Translational research, Original Articles, Cell Biology, General Medicine, Disease, Biobank, General Biochemistry, Genetics and Molecular Biology, Specimen Handling, Translational Research, Biomedical, 03 medical and health sciences, Human health, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Humans, Medicine, Engineering ethics, business, Biological Specimen Banks

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed519c9e53e210bec2eb7e73dcecc872
https://doi.org/10.1089/bio.2015.0053

المؤلفون: Jenna C. Carlson, Olivier Duverger, Maria I. Morasso, Mary L. Marazita, Mary E. Schwartz, Chelsea M. Karacz, Michael A. Cross, John R. Shaffer

المصدر: PLoS Genetics
PLoS Genetics, Vol 14, Iss 1, p e1007168 (2018)

مصطلحات موضوعية: 0301 basic medicine, Bacterial Diseases, Cancer Research, Teeth, Physiology, Digestive Physiology, Biochemistry, Epithelium, 0302 clinical medicine, Caries, Animal Cells, Medicine and Health Sciences, Ameloblasts, Pachyonychia congenita, Genetics (clinical), Enamel paint, integumentary system, medicine.anatomical_structure, Infectious Diseases, visual_art, visual_art.visual_art_medium, Keratins, Anatomy, Cellular Types, Ameloblast, Research Article, Substitution Mutation, lcsh:QH426-470, Molars, Biology, Research and Analysis Methods, 03 medical and health sciences, stomatognathic system, medicine, Genetics, Dentition, Molecular Biology, Immunohistochemistry Techniques, Ecology, Evolution, Behavior and Systematics, Enamel organ, Biology and Life Sciences, Proteins, Epithelial Cells, 030206 dentistry, Cell Biology, Hair follicle, medicine.disease, Tooth enamel, Molecular biology, Enamel rod, Histochemistry and Cytochemistry Techniques, lcsh:Genetics, stomatognathic diseases, Cytoskeletal Proteins, 030104 developmental biology, Palmoplantar keratoderma, Biological Tissue, Jaw, Mutation, Immunologic Techniques, Digestive System, Head

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590e930793ab3c00f23edb57594ef4ce
http://europepmc.org/articles/PMC5794186