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European journal of endocrinology, ISSN 0804-4643, 03/2020, Volume 182, Issue 3, pp. C9 - C12
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Immunologic Deficiency Syndromes - etiology | Skin Diseases - genetics | Humans | Brain Diseases - genetics | Growth Disorders - etiology | Addison Disease - complications | Nephrotic Syndrome - genetics | Adrenal Hyperplasia, Congenital - genetics | Bone Diseases, Developmental - genetics | Cardiomyopathies - etiology | Bone Diseases, Developmental - physiopathology | Brain Diseases - physiopathology | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Molecular Diagnostic Techniques | Adrenal Hyperplasia, Congenital - diagnosis | Addison Disease - genetics | Skin Diseases - physiopathology | Brain Diseases - etiology | Disorders of Sex Development - physiopathology | Hypoadrenocorticism, Familial - complications | Bone Diseases, Developmental - etiology | Hypoadrenocorticism, Familial - physiopathology | Addison Disease - physiopathology | Adrenal Hyperplasia, Congenital - complications | Disorders of Sex Development - genetics | Addison Disease - diagnosis | Skin Diseases - etiology | Nephrotic Syndrome - physiopathology | Immunologic Deficiency Syndromes - physiopathology | Adrenal Hyperplasia, Congenital - physiopathology | Disorders of Sex Development - etiology | Immunologic Deficiency Syndromes - genetics | Hypoadrenocorticism, Familial - diagnosis | Hypoadrenocorticism, Familial - genetics | Growth Disorders - genetics | Nephrotic Syndrome - etiology | Growth Disorders - physiopathology | Corticoids | Pediatrics | Orchidectomy | Kidneys | Glucocorticoids | Adrenal glands | Adrenal cortex | Heredity | Thyroid gland | Hydrocortisone | Patients | Pregnancy | Bone growth | Fertility | Bone marrow | Children | Diagnosis | Parathyroid | Gonads | Thyroid | Tumors
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1226 - 1237
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 123 - 129
smooth muscle hamartoma | TODPD | hypopigmented patch | filamin A | digital fibroma | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Fingers - diagnostic imaging | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Fingers - physiopathology | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Toes - diagnostic imaging | Osteochondrodysplasias - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Osteochondrodysplasias - diagnostic imaging | Filamins - genetics | Fingers - abnormalities | Bone Diseases, Developmental - diagnosis | Toes - physiopathology | Genetic Diseases, X-Linked - physiopathology | Pigmentation Disorders - physiopathology | Hypopigmentation - genetics | Pigmentation Disorders - diagnosis | Osteochondrodysplasias - diagnosis | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Hand - physiopathology | Limb Deformities, Congenital - diagnosis | Hypopigmentation - physiopathology | Osteochondrodysplasias - physiopathology | Phenotype | Turkey - epidemiology | Bone Diseases, Developmental - diagnostic imaging | Limb Deformities, Congenital - diagnostic imaging | Hypopigmentation - diagnostic imaging | Pigmentation Disorders - diagnostic imaging | Mutation | Skin - physiopathology | Toes - abnormalities | Phenotypes | Splicing | Scalp | Bone dysplasia | Smooth muscle | Skeleton | Skin | Children | Neoplasia | Defects | Ossification | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 465 - 469
Journal Article
European journal of medical genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 577 - 583
Medical Education | Raine syndrome | FAM20C gene | Kohlschutter-Tonz syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cleft Palate - diagnosis | Microcephaly - genetics | Seizures - genetics | Bone Diseases, Developmental - mortality | Casein Kinase I - genetics | Humans | Dementia - diagnosis | Dementia - physiopathology | Learning Disorders - physiopathology | Male | Cleft Palate - genetics | Epilepsy - mortality | Microcephaly - mortality | Abnormalities, Multiple - mortality | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Epilepsy - physiopathology | Exophthalmos - mortality | Dementia - genetics | Bone Diseases, Developmental - physiopathology | Osteosclerosis - mortality | Seizures - physiopathology | Amelogenesis Imperfecta - diagnosis | Exophthalmos - genetics | Amelogenesis Imperfecta - mortality | Epilepsy - genetics | Female | Microcephaly - physiopathology | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Cleft Palate - mortality | Osteosclerosis - diagnosis | Amelogenesis Imperfecta - physiopathology | Extracellular Matrix Proteins - genetics | Microcephaly - diagnosis | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Exophthalmos - diagnosis | Dementia - mortality | Epilepsy - diagnosis | Phenotype | Abnormalities, Multiple - diagnosis | Adolescent | Learning Disorders - genetics | Osteosclerosis - physiopathology | Biodegradation | Dysplasia | Learning disabilities | Diagnosis | Seizures (Medicine) | Casein | Index Medicus
Journal Article
Nephrology, dialysis, transplantation, ISSN 0931-0509, 08/2012, Volume 27, Issue 8, pp. 3063 - 3071
Journal Article
BMC medical genetics, ISSN 1471-2350, 01/2019, Volume 20, Issue 1, pp. 16 - 16
Generalized epilepsy with febrile seizures (GEFS+) | SCN9A gene | KBG syndrome | Whole exome sequencing | ANKRD11 gene | Epilepsy, Generalized - genetics | Abnormalities, Multiple - etiology | Tooth Abnormalities - physiopathology | Humans | Tooth Abnormalities - diagnostic imaging | Electroencephalography | Bone Diseases, Developmental - genetics | Genetic Loci | Bone Diseases, Developmental - physiopathology | Intellectual Disability - genetics | Tooth Abnormalities - etiology | Seizures, Febrile - physiopathology | Seizures, Febrile - genetics | Facies | Brazil | Female | NAV1.7 Voltage-Gated Sodium Channel - genetics | Abnormalities, Multiple - genetics | Bone Diseases, Developmental - etiology | Genetic Predisposition to Disease | Tooth Abnormalities - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Repressor Proteins - genetics | Abnormalities, Multiple - diagnostic imaging | Abnormalities, Multiple - physiopathology | Whole Exome Sequencing | Intellectual Disability - physiopathology | Phenotype | Epilepsy, Generalized - physiopathology | Bone Diseases, Developmental - diagnostic imaging | Pedigree | Adolescent | Alleles | Heterozygote | Intellectual Disability - etiology | Mutation | Case studies | Usage | Gene mutations | Epilepsy | Exome sequencing | Genetic aspects | Diagnosis | Research | Phenotypes | Intellectual disabilities | EEG | Hereditary diseases | Genotype & phenotype | Convulsions & seizures | Etiology | Point mutation | Bioinformatics | Age | Seizures
Journal Article
11.