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Journal of Clinical Investigation, ISSN 0021-9738, 2004, Volume 113, Issue 7, pp. 1008 - 1016
  Studies of B cell antigen receptors (BCRs) expressed by leukemic lymphocytes from patients with B cell chronic lymphocytic leukemia (B-CLL) suggest that B... 
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 02/2017, Volume 37, Issue 2, pp. 197 - 200
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 07/2019, Volume 10, p. 650
We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a... 
otofaciocervical syndrome | 6q23 deletion | EYA1 | array CGH | EYA4 | MUTATION | GENETICS & HEREDITY | PATIENT | DEAFNESS | PROTEINS | Genetic research | Branchio-Oto-Renal syndrome | Research | Diagnosis | Gene expression
Journal Article
Annals of laboratory medicine, ISSN 2234-3806, 03/2019, Volume 39, Issue 2, pp. 232 - 234
Dear Editor, Pallister–Killian syndrome (PKS; OMIM#601803) is characterized by specific craniofacial dysmorphism, pigmentary skin anomalies, limb differences,... 
MEDICAL LABORATORY TECHNOLOGY | 12P | MOSAICISM | Letter to the Editor | 병리학
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 280 - 284
  We report on a patient with a 6.5Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who... 
Cytogenetics
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 05/2017, Volume 8, Issue MAY, p. 47
In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the "22q11.2 deletion syndrome"... 
CNV-miRNA | Dgcr8 | 22q11 deletion syndrome | miRNA | Copy number variations | Array CGH | array CGH | MICRORNA BIOGENESIS | SCHIZOPHRENIA | PREFRONTAL CORTEX | COPY-NUMBER VARIATION | PATHOGENESIS | MOUSE MODEL | GENES | GENETICS & HEREDITY | DGCR8 | CONGENITAL HEART-DEFECTS | DEFICITS | copy number variations | CARDIO-FACIAL SYNDROME
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 280 - 284
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 10/2019, Volume 71, pp. 247 - 257
Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized... 
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2016, Volume 7, Issue 1, pp. 19 - 25
Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis... 
Original Article | Short stature | SHOX | SHOX duplications | Y chromosome rearrangement | GH-IGF1 axis | Original
Journal Article
Case reports in pediatrics, ISSN 2090-6803, 2015, Volume 2015, pp. 938074 - 3
We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in... 
Heart | Genotype & phenotype | Ultrasonic imaging | Transcription factors | Lymphocytes | Laboratories | Ear diseases | Arthritis | Mutation | Patients | Case Report
Journal Article
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