المؤلفون: in Histology Dds, Marwa Trifi W, Ghoul S

المصدر: International Journal of Dentistry and Oral Science. :606-610

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, medicine.disease, business, General Dentistry, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5920e9321fb09fd100308964726ff60a
https://doi.org/10.19070/2377-8075-18000118

المؤلفون: Lynn M. Boyden, Keith A. Choate

المصدر: The Journal of investigative dermatology. 137(5)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ectodermal dysplasia, Pathology, Mice, Transgenic, Dermatology, 030105 genetics & heredity, Biology, Biochemistry, Acro dermato ungual lacrimal tooth, Polymorphism, Single Nucleotide, Skin Diseases, 03 medical and health sciences, Mice, Blister, Ectodermal Dysplasia, medicine, Animals, Humans, Molecular Biology, Skin, Disease gene, Genome, Human, Cell Biology, DNA, Sequence Analysis, DNA, medicine.disease, Phenotype, Mutation, Keratins, Identification (biology), Polymorphism, Restriction Fragment Length, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c950029083d2a48c9b20775208a2b2d
https://pubmed.ncbi.nlm.nih.gov/28411848

المؤلفون: Brandi Kenner-Bell, Adam Whittington, Sarah Stein

المصدر: Pediatric dermatology. 33(5)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Ectodermal dysplasia, Adolescent, Limb Deformities, Congenital, Tp63 gene, Mothers, Nails, Malformed, Locus (genetics), Dermatology, Risk Assessment, Severity of Illness Index, Anodontia, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, Familial case, 0302 clinical medicine, Ectodermal Dysplasia, Lacrimal Duct Obstruction, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Breast, Child, Pigmentation disorder, business.industry, Siblings, Tumor Suppressor Proteins, 030206 dentistry, medicine.disease, Prognosis, Acro–dermato–ungual–lacrimal–tooth syndrome, Pedigree, Pediatrics, Perinatology and Child Health, Mutation, Female, Differential diagnosis, business, Pigmentation Disorders, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::227a99ceaa5b9e6eece19cce94e38e89
https://pubmed.ncbi.nlm.nih.gov/27469932

المؤلفون: Melissa Bellini, Federica Natacci, Fabienne Escande, Ugo Cavallari, Maria Francesca Bedeschi, Faustina Lalatta

المصدر: Clinical Dysmorphology. 15:239-241

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ectodermal dysplasia, Nails, Malformed, Oligodactyly, Acro dermato ungual lacrimal tooth, Cutaneous syndactyly, Pathology and Forensic Medicine, Variable Expression, stomatognathic system, Ectodermal Dysplasia, Anal stenosis, medicine, Humans, Abnormalities, Multiple, Maxillary central incisor, Child, Genetics (clinical), Tooth Abnormalities, business.industry, Tumor Suppressor Proteins, Syndrome, General Medicine, medicine.disease, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome, DNA-Binding Proteins, stomatognathic diseases, Phenotype, Pediatrics, Perinatology and Child Health, Trans-Activators, Syndactyly, Anatomy, business, Nasolacrimal Duct, Hair, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f13e3d70649b84ce6088ef652955bdc
https://doi.org/10.1097/01.mcd.0000220618.01144.6d

المؤلفون: Emilio Donti, Paolo Prontera, Adriana Carando, Margherita Silengo, Ilenia Isidori, Amedea Mencarelli, Emanuela Garelli

المصدر: American journal of medical genetics. Part A. (11)

مصطلحات موضوعية: Male, DNA Mutational Analysis, medicine.disease_cause, acro-dermato-ungual-lacrimal-tooth syndrome, Ectodermal Dysplasia, Medicine, limb-mammary syndrome, Breast, Genetics (clinical), EEC, ADULT, ectrodactyly-ectodermal dysplasia-cleft lip/palate, LMS, TP63, cleft palate, phenotypic variability, ELA syndrome, ADULTectrodactyly-ectodermal dysplasia-cleft lip/palate, Mutation, medicine.diagnostic_test, Anatomy, Phenotype, Acro–dermato–ungual–lacrimal–tooth syndrome, Cleft Palate, Adult, medicine.medical_specialty, Heterozygote, Cleft Lip, Limb Deformities, Congenital, Nails, Malformed, Limb–mammary syndrome, Intellectual Disability, Lacrimal Duct Obstruction, Genetics, Humans, Abbreviations as Topic, Genetic Testing, Genetic testing, Anodontia, business.industry, Tumor Suppressor Proteins, Heterozygote advantage, medicine.disease, Dermatology, stomatognathic diseases, Syndactyly, Differential diagnosis, business, Pigmentation Disorders, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b1120c9cfa747c70ff0c2ca05a36b20
https://pubmed.ncbi.nlm.nih.gov/21990121

المؤلفون: Muhammed T Razmi, Tarun Narang, Sanjeev Handa

المصدر: Indian Dermatology Online Journal, Vol 9, Iss 3, Pp 194-196 (2018)
Indian Dermatology Online Journal

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Concise Communication, lcsh:RL1-803, medicine.disease, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, lcsh:Dermatology, medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6176c01d429f819fcebd7c415b1f91
https://doi.org/10.4103/idoj.idoj_195_17

المؤلفون: Prontera P, Isidori I, Mencarelli A, Donti E., GARELLI, Emanuela, CARANDO, Adriana, CIRILLO, Margherita

المساهمون: Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.

مصطلحات موضوعية: acro-dermato-ungual-lacrimal-tooth syndrome, ADULTectrodactyly-ectodermal dysplasia-cleft lip/palate, EEC, limb-mammary syndrome, LMS, TP63, cleft palate, phenotypic variability, ELA syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21990121; info:eu-repo/semantics/altIdentifier/wos/WOS:000297199700019; volume:155; firstpage:2746; lastpage:2749; numberofpages:4; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2318/90811; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80054903555

الاتاحة: http://hdl.handle.net/2318/90811

المؤلفون: PRONTERA, PAOLO, MENCARELLI, Amedea, DONTI, Emilio, Garelli E., Isidori I., Carando A., Silengo M.C.

المساهمون: Prontera, Paolo, Garelli, E., Isidori, I., Mencarelli, Amedea, Carando, A., Silengo, M. C., Donti, Emilio

مصطلحات موضوعية: acro-dermato-ungual-lacrimal-tooth syndrome, ADULT, ectrodactyly-ectodermal dysplasia-cleft lip/palate, EEC, limb-mammary syndrome, LMS, TP63, cleft palate, phenotypic variability, ELA syndrome

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000297199700019; volume:155A/2011; issue:11; firstpage:2746; lastpage:2749; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11391/610897; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80054903555

الاتاحة: http://hdl.handle.net/11391/610897

المؤلفون: Wen-hong Ye, Zhi-wei Tang, Shuang Chen, Wen-lin Yang, Hong-juan Zhang, Jian Yang, Guang-sheng Chen

المصدر: Chinese medical journal. 120(9)

مصطلحات موضوعية: Adult, Ectodermal dysplasia, medicine.medical_specialty, Nasolacrimal duct, Traditional medicine, business.industry, Tooth Abnormalities, Tooth Abnormality, General Medicine, Syndrome, medicine.disease, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome, Fingers, medicine.anatomical_structure, Ectodermal Dysplasia, medicine, Humans, Female, business, Nasolacrimal Duct

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e437825e788cd894c82fe54272bdb963
https://pubmed.ncbi.nlm.nih.gov/17531133

المؤلفون: Diana W Bianchi, Karen E O'Brien, Julie Shorrock

المصدر: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 21(8)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Ectrodactyly, Lacrimal duct, Prenatal diagnosis, Ultrasonography, Prenatal, Preeclampsia, Fingers, Pregnancy, medicine, Humans, Radiology, Nuclear Medicine and imaging, Abnormalities, Multiple, Genes, Dominant, Fetus, Radiological and Ultrasound Technology, business.industry, Syndrome, Toes, medicine.disease, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome, Gestation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09abb5312eb03c6b02ad33e9d509b3a
https://pubmed.ncbi.nlm.nih.gov/12164578

المؤلفون: N Ginige, Ksh de Silva, J Senevirathne

المصدر: Indian Journal of Paediatric Dermatology. 15:130

مصطلحات موضوعية: medicine.medical_specialty, Ectrodactyly, business.industry, medicine.disease, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome, Hypoplasia, Surgery, stomatognathic diseases, Hypodontia, Absent nipple, Lacrimal duct atresia, Medicine, Syndactyly, business, Parotitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d2ac3a2a5fa7f3f29d8ac631e8f9c8f
https://doi.org/10.4103/2319-7250.143672