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Journal of Human Genetics, ISSN 1434-5161, 07/2018, Volume 63, Issue 8, pp. 887 - 892
Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or... 
DIFFERENTIAL-DIAGNOSIS | PANEL | CHANNEL | GENE | GENETICS & HEREDITY | COTRANSPORTER | SALT-LOSING TUBULOPATHIES | HYPOKALEMIC ALKALOSIS | MUTATIONS | Congenital diseases
Journal Article
No to hattatsu = Brain and development, ISSN 0029-0831, 01/2016, Volume 48, Issue 1, p. 3
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2019, Volume 64, Issue 1, pp. 3 - 9
Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic... 
GENE | GENETICS & HEREDITY | FACIAL-DIGITAL SYNDROME | JOUBERT SYNDROME | TYPE-1 | MOLECULAR-BASIS | PHENOTYPIC SPECTRUM | Genotype & phenotype | Pediatrics | Hospitals | Mutation | Kidney diseases | Hearing impairment | Patients
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 647 - 656
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of... 
BOR SYNDROME | SALL1 | EYA1 | SIX2 | GENES | GENETICS & HEREDITY | KIDNEY DEVELOPMENT | MUTATIONS | Hearing impairment | Mutation
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 589 - 595
The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted... 
WOMEN | CLCN5 | GENETICS & HEREDITY | PATTERNS | MUTATIONS | TISSUES | AGE | Urine | Enzymes | Pediatrics | Nephrology | Genes | Muscular dystrophy | Polymerase chain reaction | Androgens | DNA methylation | Mutation | Kidney diseases | Females | Chromosomes | Deoxyribonucleic acid--DNA
Journal Article
Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 31 - 3
CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by... 
Pediatrics | Congenital diseases | Genomes | Kinases | Patients | Medicine | Polymerase chain reaction | Cell growth | Ultrasonic imaging | Scoliosis | Pancreatic cancer | Genetics | Genetic testing | Mutation | Deoxyribonucleic acid--DNA | University graduates
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2019, Volume 9, Issue 1, pp. 12696 - 6
X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing,... 
GENE | MULTIDISCIPLINARY SCIENCES | IV COLLAGEN | DISEASE | MUTATIONS | CDNA | LINKED ALPORT-SYNDROME | Pathogenicity | Splicing | Transcription | Exon skipping | Alport syndrome | Point mutation | Insertion | Mutation
Journal Article
Brain and Development, ISSN 0387-7604, 04/2018, Volume 40, Issue 4, pp. 343 - 347
The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA... 
Non-5q spinal muscular atrophy | Next-generation sequencing | SMN1 in 5q13 | BICD2 mutation | Autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 | Motor-adaptor protein | Spinal muscular atrophy
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1315 - 1318
Journal Article
Clinical and Experimental Nephrology, ISSN 1342-1751, 2/2017, Volume 21, Issue 1, pp. 136 - 142
Journal Article
Clinical and Experimental Nephrology, ISSN 1342-1751, 10/2016, Volume 20, Issue 5, pp. 699 - 702
Journal Article