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Harefuah, ISSN 0017-7768, 10/2017, Volume 156, Issue 10, p. 654
Hereditary disorders of renal phosphate handling comprise a diverse group of genetic diseases, usually characterized by excessive urinary phosphate wasting and... 
Genetic Predisposition to Disease | Phosphates - metabolism | Kidney Tubules, Proximal | Genetic Markers - genetics | Humans | Parathyroid Hormone | Kidney | Kidney Diseases - genetics | Kidney Diseases - metabolism
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2018, Volume 33, Issue suppl_1, pp. i307 - i308
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2017, Volume 102, Issue 12, pp. 4604 - 4614
Journal Article
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 83, Issue 1, pp. 30 - 42
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher... 
CHAIN | GENE | HEREDITARY SPASTIC PARAPLEGIA | MOLECULAR CHAPERONES | HEAT-SHOCK-PROTEIN-60 | IN-VIVO | ESCHERICHIA-COLI | GENETICS & HEREDITY | PELIZAEUS-MERZBACHER-DISEASE | PROTEIN HSP60 | GJA12 MUTATIONS | Humans | Molecular Sequence Data | Neurodegenerative Diseases - diagnosis | Infant | Male | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Mitochondrial Proteins - genetics | Case-Control Studies | Chromosomes, Human, Pair 2 | Genes, Lethal | DNA Mutational Analysis | Conserved Sequence | Hereditary Central Nervous System Demyelinating Diseases - diagnosis | Female | Chaperonin 60 - metabolism | Microsatellite Repeats | Neurodegenerative Diseases - diagnostic imaging | Genetic Linkage | Hereditary Central Nervous System Demyelinating Diseases - genetics | Amino Acid Sequence | Chaperonin 60 - chemistry | Chaperonin 60 - genetics | Neurodegenerative Diseases - pathology | Physical Chromosome Mapping | Escherichia coli Proteins - metabolism | Neurodegenerative Diseases - genetics | Genetic Markers | Genes, Recessive | Radiography | Sequence Homology, Amino Acid | Hereditary Central Nervous System Demyelinating Diseases - pathology | Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging | Neurodegenerative Diseases - physiopathology | Polymorphism, Restriction Fragment Length | Pedigree | Escherichia coli Proteins - genetics | Consanguinity | Chaperonin 60 - analysis | Mutation | Heat shock proteins | Causes of | Nervous system | Myelination | Degeneration | Health aspects
Journal Article
Brain, ISSN 0006-8950, 11/2019
Abstract Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2010, Volume 363, Issue 18, pp. 1774 - 1775
Journal Article