lina-basel-vanagaite documents

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?
Documents Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?
Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome
Documents Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome
Keppen–Lubinsky syndrome: Expanding the phenotype
Documents Keppen–Lubinsky syndrome: Expanding the phenotype
Familial hydrocephalus with normal cognition and distinctive radiological features
Documents Familial hydrocephalus with normal cognition and distinctive radiological features
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
Documents Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
Amniotic trisomy 11 mosaicism—is it a benign finding?
Documents Amniotic trisomy 11 mosaicism—is it a benign finding?
RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome
Documents RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome
Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1
Documents Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
Documents Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
826 Mutated Gpd1, Encoding Glycerol-3-Phosphate Dehydrogenase 1, Causes Transient Infantile Hypertriglyceridemia With Fatty Liver and Hepatic Fibrosis
Documents 826 Mutated Gpd1, Encoding Glycerol-3-Phosphate Dehydrogenase 1, Causes Transient Infantile Hypertriglyceridemia With Fatty Liver and Hepatic Fibrosis