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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 01/2018, Volume 177, Issue 1, pp. 10 - 20
Journal Article
American Journal of Medical Genetics Part B, ISSN 1552-485X, 2018, Volume 177, Issue 1, p. 10
Intellectual Disability (ID) is a clinically heterogeneous condition that affects 2-3% of population worldwide. In recent years, exome sequencing has been a... 
Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 03/2013, Volume 28, Issue 3, pp. 585 - 591
The reabsorption of filtered plasma proteins, hormones and vitamins by the renal proximal tubules is vital for body homeostasis. Studies of megalin-deficient... 
Proximal tubules | Low-molecular-weight proteinuria | Micro-albuminuria | Megalin-deficient patients | Renal immunohistochemistry | NEPHROTIC LEVELS | low-molecular-weight proteinuria | AMNIONLESS | proximal tubules | micro-albuminuria | CUBILIN | RECEPTOR | renal immunohistochemistry | ENDOCYTOSIS | TRANSPLANTATION | DONNAI-BARROW | VITAMIN-D-3 | UROLOGY & NEPHROLOGY | megalin-deficient patients | DYSFUNCTION | KIDNEY | PROXIMAL TUBULE | Low Density Lipoprotein Receptor-Related Protein-2 - deficiency | Agenesis of Corpus Callosum - metabolism | Kidney Tubules, Proximal - pathology | Hearing Loss, Sensorineural - metabolism | Albumins - metabolism | Humans | Child, Preschool | Hearing Loss, Sensorineural - pathology | Proteinuria - metabolism | Myopia - pathology | Hearing Loss, Sensorineural - genetics | Proteinuria - genetics | Proteinuria - pathology | Mutation - genetics | Agenesis of Corpus Callosum - pathology | Renal Tubular Transport, Inborn Errors | Myopia - metabolism | Hernias, Diaphragmatic, Congenital | Myopia - genetics | Phenotype | Agenesis of Corpus Callosum - genetics | Kidney Tubules, Proximal - metabolism | Female | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Index Medicus | Clinical Medicine | Basic Medicine | Pathology | Clinical Laboratory Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Patologi | Klinisk medicin | Klinisk laboratoriemedicin
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2017, Volume 92, Issue 5, pp. 510 - 516
Mutations in genes involved in the cilium‐centrosome complex are called ciliopathies. Meckel‐Gruber syndrome ( MKS ) is a ciliopathic lethal autosomal... 
whole‐exome sequencing | Meckel‐like | cytokinesis | CEP55 | ciliopathy | Meckel-like | whole-exome sequencing | ESCRT-III | MIDBODY | IDENTIFICATION | CENTROSOMAL PROTEIN | PRIMARY CILIUM | GENE | GRUBER-SYNDROME | GENETICS & HEREDITY | CILIOGENESIS | EXPRESSION | Fetus - abnormalities | Humans | Male | Genetic Loci | DNA - blood | Ciliopathies - genetics | Haplotypes - genetics | DNA Mutational Analysis | Base Pairing - genetics | Base Sequence | Cell Cycle Proteins - genetics | Female | Pancreatic Cyst - diagnostic imaging | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Dandy-Walker Syndrome - diagnostic imaging | Dandy-Walker Syndrome - genetics | Abnormalities, Multiple - diagnostic imaging | Exons - genetics | Genes, Recessive | Pancreatic Cyst - genetics | Pregnancy | Pedigree | Alleles | Codon, Nonsense - genetics | Pregnancy Outcome | Ciliopathies - pathology | Proteins | Medical research | Embryonic development | Dysplasia | Analysis | Genetic research | Medicine, Experimental | Genetics | Genetic aspects | Meckel's syndrome | Kidneys | Nonsense mutation | Congenital defects | Fetuses | Cytokinesis | Neurodevelopmental disorders | Ribonucleic acid--RNA | Encephalocele | Embryogenesis | Polydactyly | Mutation | Kidney transplantation | Index Medicus | Clinical Laboratory Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Patologi | Klinisk medicin | Klinisk laboratoriemedicin | whole exome sequencing | Clinical Medicine | Pathology
Journal Article
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 07/2006, Volume 141B, Issue 5, pp. 463 - 467
Journal Article
Otology & Neurotology, ISSN 1531-7129, 08/2006, Volume 27, Issue 5, pp. 681 - 686
Journal Article
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