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Lancet neurology, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Child, Preschool | Infant | Male | Hearing Loss, Sensorineural - genetics | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Nails, Malformed - genetics | Young Adult | Carrier Proteins - genetics | Exome - genetics | Hearing Loss, Sensorineural - diagnosis | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Internationality | Intellectual Disability - diagnosis | Adolescent | Carrier Proteins - chemistry | Female | Child | Sequence Analysis, DNA - methods | Craniofacial Abnormalities - genetics | Nails, Malformed - diagnosis | Deafness | Medical research | Medical colleges | Epilepsy | Genomics | Medical genetics | Medicine, Experimental | Genetic research | Genetic aspects | Genomes | Seizures (Medicine) | Mental illness | Index Medicus | Calvaria
Journal Article
International journal of dermatology, ISSN 0011-9059, 07/2018, Volume 57, Issue 7, pp. 776 - 783
Life Sciences & Biomedicine | Dermatology | Science & Technology | Janus Kinase Inhibitors - therapeutic use | Nails, Malformed - epidemiology | Humans | Nails, Malformed - drug therapy | Nails, Malformed - etiology | Adrenal Cortex Hormones - therapeutic use | Nails, Malformed - pathology | Alopecia Areata - complications | Adrenal Cortex Hormones - administration & dosage | Baldness | Development and progression | Alopecia | Deformities | Nails | Pathogenesis | Clinical trials | Onycholysis | Lichen planus | Onychomycosis | Corrosion | Etiology | Searching | Differential diagnosis | Diagnosis | Hair loss | Index Medicus
Journal Article
American journal of clinical dermatology, ISSN 1175-0561, 4/2011, Volume 12, Issue 2, pp. 101 - 112
Pharmacotherapy | Medicine & Public Health | Pharmacology/Toxicology | Dermatology | Warts | Paronychia | Nail-disorders, diagnosis | Infections | Children | Onycholysis | Nail-disorders, treatment | Congenital-disorders | Onychomycosis | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Skin Neoplasms - pathology | Nail Diseases - diagnosis | Nails, Malformed - therapy | Age Factors | Skin Neoplasms - therapy | Humans | Nail Diseases - therapy | Skin Diseases - pathology | Nail Diseases - pathology | Nails - pathology | Nails, Malformed - pathology | Skin Diseases - complications | Biopsy | Nails - injuries | Skin Neoplasms - diagnosis | Adult | Child | Nails, Malformed - diagnosis | Nail diseases | Care and treatment | Immunotherapy | Genetic aspects | Diagnosis | Research | Health aspects
Journal Article
Journal of dermatology, ISSN 0385-2407, 04/2013, Volume 40, Issue 4, pp. 307 - 308
Life Sciences & Biomedicine | Dermatology | Science & Technology | Nail Diseases - diagnosis | Humans | Hyperpigmentation - diagnosis | Ectodermal Dysplasia - diagnosis | Lymphedema - blood | Lymphedema - diagnosis | Ectodermal Dysplasia - blood | Hyperpigmentation - blood | Skin Neoplasms - blood | Noonan Syndrome - blood | Rothmund-Thomson Syndrome - diagnosis | Young Adult | Rothmund-Thomson Syndrome - blood | Nail Diseases - blood | Alopecia - blood | Skin Neoplasms - diagnosis | Female | Bone and Bones - abnormalities | Hydrocortisone - blood | Alopecia - diagnosis | Noonan Syndrome - diagnosis | Corticosteroids | Steroids
Journal Article
Annales de dermatologie et de vénéréologie, ISSN 0151-9638, 04/2018, Volume 145, Issue 4, pp. 304 - 306
Life Sciences & Biomedicine | Dermatology | Science & Technology | Nail Diseases - diagnostic imaging | Diagnosis, Differential | Nail Diseases - diagnosis | Humans | Infant | Nail Diseases - congenital | Nail Diseases - pathology | Nails, Malformed - pathology | Syndrome | Nails, Malformed - diagnostic imaging | Female | Nails, Malformed - congenital | Nails, Malformed - diagnosis
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases | Index Medicus
Journal Article
Pediatrics in review, ISSN 0191-9601, 09/2016, Volume 37, Issue 9, pp. e38 - e40
Journal Article
The American journal of dermatopathology, ISSN 0193-1091, 09/2017, Volume 39, Issue 9, pp. 707 - 708
Life Sciences & Biomedicine | Dermatology | Science & Technology | Immunohistochemistry | Skin Neoplasms - pathology | Nail Diseases - diagnosis | Nevus, Spindle Cell - surgery | Prognosis | Risk Assessment | Humans | Thumb | Treatment Outcome | Nail Diseases - pathology | Nails, Malformed - pathology | Nevus, Spindle Cell - pathology | Nails, Malformed - surgery | Nevus, Spindle Cell - diagnosis | Skin Neoplasms - diagnosis | Adult | Nail Diseases - surgery | Biopsy, Needle | Skin Neoplasms - surgery | Nails, Malformed - diagnosis | Index Medicus
Journal Article
Canadian Medical Association journal (CMAJ), ISSN 0820-3946, 09/2020, Volume 192, Issue 36, pp. E1040 - E1040
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | COVID-19 | Nail Diseases - diagnosis | Pandemics | Nail Diseases - etiology | Humans | Pneumonia, Viral - complications | Coronavirus Infections - complications | Nails, Malformed - etiology | Nails, Malformed - diagnosis | Coronaviruses | Severe acute respiratory syndrome coronavirus 2 | Dermatology | Fingers & toes | Index Medicus | Abridged Index Medicus | Practice
Journal Article
Pediatric dermatology, ISSN 0736-8046, 09/2016, Volume 33, Issue 5, pp. e322 - e326
Pediatrics | Life Sciences & Biomedicine | Dermatology | Science & Technology | Anodontia - diagnosis | Limb Deformities, Congenital - genetics | Prognosis | Humans | Lacrimal Duct Obstruction - diagnosis | Lacrimal Duct Obstruction - genetics | Mothers | Anodontia - genetics | Tumor Suppressor Proteins - genetics | Abnormalities, Multiple - epidemiology | Adult | Female | Child | Siblings | Severity of Illness Index | Pigmentation Disorders - epidemiology | Diagnosis, Differential | Genetic Predisposition to Disease | Risk Assessment | Pigmentation Disorders - diagnosis | Ectodermal Dysplasia - diagnosis | Ectodermal Dysplasia - epidemiology | Transcription Factors - genetics | Pigmentation Disorders - genetics | Lacrimal Duct Obstruction - epidemiology | Nails, Malformed - genetics | Anodontia - epidemiology | Limb Deformities, Congenital - diagnosis | Breast - abnormalities | Limb Deformities, Congenital - epidemiology | Nails, Malformed - epidemiology | Pedigree | Abnormalities, Multiple - diagnosis | Adolescent | Ectodermal Dysplasia - genetics | Mutation | Nails, Malformed - diagnosis | Dysplasia | Index Medicus
Journal Article
1991, ISBN 9781853170041, ix, 188
Book
Pediatric dermatology, ISSN 0736-8046, 09/2016, Volume 33, Issue 5, pp. e288 - e289
Pediatrics | Life Sciences & Biomedicine | Dermatology | Science & Technology | Nails, Malformed - therapy | Paronychia - etiology | Humans | Paronychia - diagnosis | Female | Nails, Malformed - congenital | Child | Paronychia - therapy | Nails, Malformed - diagnosis | Genetic disorders | Index Medicus
Journal Article
La revue de medecine interne, ISSN 0248-8663, 09/2018, Volume 39, Issue 9, pp. 767 - 768
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cough - etiology | Nail Diseases - diagnosis | Nail Diseases - etiology | Humans | Middle Aged | Cough - diagnosis | Female | Yellow Nail Syndrome - diagnosis | Nails, Malformed - etiology | Chronic Disease | Nails, Malformed - pathology | Nails, Malformed - diagnosis | Index Medicus
Journal Article
Pediatric dermatology, ISSN 0736-8046, 11/2015, Volume 32, Issue 6, pp. e305 - e306
Pediatrics | Life Sciences & Biomedicine | Dermatology | Science & Technology | Diagnosis, Differential | Nail Diseases - diagnosis | Follow-Up Studies | Humans | Treatment Outcome | Finger Injuries - complications | Rare Diseases | Choristoma - diagnosis | Warts - etiology | Choristoma - etiology | Nails, Malformed - surgery | Nail Diseases - etiology | Female | Nail Diseases - surgery | Warts - diagnosis | Finger Injuries - diagnosis | Nails, Malformed - etiology | Child | Choristoma - surgery | Nails, Malformed - diagnosis | Index Medicus
Journal Article
Kidney international, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 918 - 918
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Reoperation | Kidney Failure, Chronic - diagnosis | Humans | Nails, Malformed - physiopathology | Kidney Failure, Chronic - therapy | Ligation | Arteriovenous Shunt, Surgical - adverse effects | Female | Aged | Hemodynamics | Nails, Malformed - etiology | Nails, Malformed - diagnosis | Renal Dialysis | Index Medicus
Journal Article
Journal of genetics, ISSN 0022-1333, 03/2018, Volume 97, Issue 1, pp. 35 - 46
mutation | diagnostic criteria | SETBP1 gene | Schinzel–Giedion syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Electroencephalography | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Craniofacial Abnormalities - diagnostic imaging | Point Mutation - genetics | DNA Mutational Analysis | Base Sequence | Female | Nuclear Proteins - genetics | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hand Deformities, Congenital - diagnostic imaging | Intellectual Disability - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Nails, Malformed - diagnostic imaging | Nails, Malformed - genetics | Carrier Proteins - genetics | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Heterozygote | Nails, Malformed - diagnosis | Medicine, Experimental | Medical colleges | Medical research | Kidney diseases | Diagnosis | Phenotypes | Typing | Language | Nose | Cortex | Central nervous system | Insertion | Heredity | Mutation | Hereditary diseases | Index Medicus
Journal Article