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1. Full Text The genomic landscape of hepatoblastoma and their progenies with HCC-like features
by Eichenmüller, Melanie and Trippel, Franziska and Kreuder, Michaela and Beck, Alexander and Schwarzmayr, Thomas and Häberle, Beate and Cairo, Stefano and Leuschner, Ivo and von Schweinitz, Dietrich and Strom, Tim M and Kappler, Roland
Journal of Hepatology, ISSN 0168-8278, 2014, Volume 61, Issue 6, pp. 1312 - 1320
Background & Aims Hepatoblastoma (HB) is the most common childhood liver cancer and occasionally presents with histological and clinical features reminiscent... 
Gastroenterology and Hepatology | Exome | Paediatric | Beta catenin | Hepatocellular carcinoma | Mutation | Telomerase reverse-transcriptase | Hepatoblastoma | NFE2L2 | Hepatoblastoma - genetics | Liver Neoplasms - genetics | Genomics | Humans | Mutation - genetics | Sequence Analysis, DNA | beta Catenin - genetics | Telomerase - genetics | Biopsy | Carcinoma, Hepatocellular - genetics | Carcinoma, Hepatocellular - pathology | Cell Line, Tumor | Adult | Liver Neoplasms - pathology | NF-E2-Related Factor 2 - genetics | Retrospective Studies | DNA, Neoplasm - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Kelch-Like ECH-Associated Protein 1 | Hepatoblastoma - pathology | Liver cancer | Index Medicus
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2. Full Text Classic Selective Sweeps Revealed by Massive Sequencing in Cattle
by Qanbari, Saber and Pausch, Hubert and Jansen, Sandra and Somel, Mehmet and Strom, Tim M and Fries, Ruedi and Nielsen, Rasmus and Simianer, Henner
PLoS Genetics, ISSN 1553-7390, 02/2014, Volume 10, Issue 2, pp. e1004148 - e1004148
Author Summary Domestication of cattle had a major impact on human civilization by providing protein and physical power for agrarian life style. Domestication... 
DC-STAMP | LINKAGE DISEQUILIBRIUM | SIGNATURES | GENOTYPE IMPUTATION | RECENT POSITIVE SELECTION | MOUSE | GENETICS & HEREDITY | RECEPTOR | POLYMORPHISM | NEUREGULIN-1 | GENOME-WIDE ASSOCIATION | Quantitative genetics | Genetic aspects | Research | Cattle | Analysis | Index Medicus | Studies | Haplotypes | Gene loci | Genomes | Breeding of animals | Sensory perception | Chromosomes | Statistics
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3. Full Text Transcriptome and genome sequencing uncovers functional variation in humans
by Lappalainen, Tuuli and Sammeth, Michael and Friedländer, Marc R and 'T Hoen, Peter A. C and Monlong, Jean and Rivas, Manuel A and Gonzàlez-Porta, Mar and Kurbatova, Natalja and Griebel, Thasso and Ferreira, Pedro G and Barann, Matthias and Wieland, Thomas and Greger, Liliana and Van Iterson, Maarten and Almlöf, Jonas and Ribeca, Paolo and Pulyakhina, Irina and Esser, Daniela and Giger, Thomas and Tikhonov, Andrew and Sultan, Marc and Bertier, Gabrielle and Macarthur, Daniel G and Lek, Monkol and Lizano, Esther and Buermans, Henk P. J and Padioleau, Ismael and Schwarzmayr, Thomas and Karlberg, Olof and Ongen, Halit and Kilpinen, Helena and Beltran, Sergi and Gut, Marta and Kahlem, Katja and Amstislavskiy, Vyacheslav and Stegle, Oliver and Pirinen, Matti and Montgomery, Stephen B and Donnelly, Peter and McCarthy, Mark I and Flicek, Paul and Strom, Tim M and Lehrach, Hans and Schreiber, Stefan and Sudbrak, Ralf and Carracedo, Ángel and Antonarakis, Stylianos E and Häsler, Robert and Syvänen, Ann-Christine and Van Ommen, Gert-Jan and Brazma, Alvis and Meitinger, Thomas and Rosenstiel, Philip and Guigó, Roderic and Gut, Ivo G and Estivill, Xavier and Dermitzakis, Emmanouil T and Geuvadis Consortium and The Geuvadis Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature, ISSN 0028-0836, 2013, Volume 501, Issue 7468, pp. 506 - 511
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for... 
POPULATION | VARIANTS | QTLS | LANDSCAPE | HUMAN GENE-EXPRESSION | MULTIDISCIPLINARY SCIENCES | Humans | RNA, Messenger - genetics | RNA, Messenger - analysis | Exons - genetics | Gene Expression Profiling | Transcriptome - genetics | Genome, Human - genetics | Sequence Analysis, RNA | Alleles | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Cell Line, Transformed | Quantitative Trait Loci - genetics | Studies | Population | Genomes | Gene expression | Genomics | Quality control | Index Medicus | Biological Sciences | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Bioinformatik och systembiologi | Bioinformatics and Systems Biology | Genetik | Medical Genetics | Medicinsk genetik | Naturvetenskap | Biologiska vetenskaper | Medicinska och farmaceutiska grundvetenskaper | Genetics | Natural Sciences
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4. Full Text Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
by Rauch, Anita, Prof and Wieczorek, Dagmar, MD and Graf, Elisabeth, MSc and Wieland, Thomas, MSc and Endele, Sabine, PhD and Schwarzmayr, Thomas, MSc and Albrecht, Beate, MD and Bartholdi, Deborah, MD and Beygo, Jasmin, MSc and Di Donato, Nataliya, MD and Dufke, Andreas, MD and Cremer, Kirsten, MD and Hempel, Maja, MD and Horn, Denise, MD and Hoyer, Juliane, MD and Joset, Pascal, PhD and Röpke, Albrecht, PhD and Moog, Ute, MD and Riess, Angelika, MD and Thiel, Christian T, MD and Tzschach, Andreas, MD and Wiesener, Antje, MD and Wohlleber, Eva, MD and Zweier, Christiane, MD and Ekici, Arif B, PhD and Zink, Alexander M, MSc and Rump, Andreas, PhD and Meisinger, Christa, MD and Grallert, Harald, PhD and Sticht, Heinrich, PhD and Schenck, Annette, PhD and Engels, Hartmut, PhD and Rappold, Gudrun, Prof and Schröck, Evelin, Prof and Wieacker, Peter, Prof and Riess, Olaf, Prof and Meitinger, Thomas, Prof and Reis, André, Prof and Strom, Tim M, Dr
Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Summary Background The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about... 
Internal Medicine | DELINEATION | MEDICINE, GENERAL & INTERNAL | DE-NOVO MUTATIONS | MENTAL-RETARDATION | VARIANTS | RECEPTOR | DEVELOPMENTAL DELAY | PATIENT | EPILEPSY | AUTISM SPECTRUM DISORDERS | NONSENSE MUTATION | Exome - genetics | Humans | Female | Male | Mutation - genetics | Child | Case-Control Studies | Intellectual Disability - genetics | Intelligence levels | Gene mutations | Intellect | Genetic aspects | Mental illness | Health aspects | Risk factors | Studies | Genetics | Mutation | Mental retardation | Index Medicus | Abridged Index Medicus
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5. Full Text Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
by Freischmidt, Axel and Wieland, Thomas and Richter, Benjamin and Ruf, Wolfgang and Schaeffer, Veronique and Müller, Kathrin and Marroquin, Nicolai and Nordin, Frida and Hübers, Annemarie and Weydt, Patrick and Pinto, Susana and Press, Rayomond and Millecamps, Stéphanie and Molko, Nicolas and Bernard, Emilien and Desnuelle, Claude and Soriani, Marie-Hélène and Dorst, Johannes and Graf, Elisabeth and Nordström, Ulrika and Feiler, Marisa S and Putz, Stefan and Boeckers, Tobias M and Meyer, Thomas and Winkler, Andrea S and Winkelman, Juliane and De Carvalho, Mamede and Thal, Dietmar R and Otto, Markus and Brännström, Thomas and Volk, Alexander E and Kursula, Petri and Danzer, Karin M and Lichtner, Peter and Dikic, Ivan and Meitinger, Thomas and Ludolph, Albert C and Strom, Tim M and Andersen, Peter M and Weishaupt, Jochen H and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Institutionen för medicinsk biovetenskap and Klinisk neurovetenskap and Umeå universitet
Nature Neuroscience, ISSN 1097-6256, 04/2015, Volume 18, Issue 5, pp. 631 - 636
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed... 
AUTOPHAGY RECEPTOR | ACTIVATION | KINASE | AMYOTROPHIC-LATERAL-SCLEROSIS | MOTOR-NEURON DISEASE | OPTINEURIN | MUTATIONS | GLAUCOMA | BINDING | TANK | NEUROSCIENCES | Frontotemporal Dementia - genetics | Protein Structure, Tertiary | Protein-Serine-Threonine Kinases - deficiency | Genome-Wide Association Study | Amyotrophic Lateral Sclerosis - genetics | Gene Frequency | Humans | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Europe - epidemiology | Male | Codon, Nonsense | Mutation, Missense | Sequence Analysis, DNA | Transcription Factor TFIIIA - metabolism | Genetic Heterogeneity | Exome | Protein-Serine-Threonine Kinases - biosynthesis | DNA Mutational Analysis | Pedigree | Alleles | Female | Frontotemporal Dementia - epidemiology | Amyotrophic Lateral Sclerosis - epidemiology | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Properties | Phosphotransferases | Index Medicus | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
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6. Full Text Mutations in the deubiquitinase gene USP8 cause Cushing's disease
by Reincke, Martin and Sbiera, Silviu and Hayakawa, Akira and Theodoropoulou, Marily and Osswald, Andrea and Beuschlein, Felix and Meitinger, Thomas and Mizuno-Yamasaki, Emi and Kawaguchi, Kohei and Saeki, Yasushi and Tanaka, Keiji and Wieland, Thomas and Graf, Elisabeth and Saeger, Wolfgang and Ronchi, Cristina L and Allolio, Bruno and Buchfelder, Michael and Strom, Tim M and Fassnacht, Martin and Komada, Masayuki
Nature Genetics, ISSN 1061-4036, 12/2014, Volume 47, Issue 1, pp. 31 - 38
Cushing's disease is caused by corticotroph adenomas of the pituitary. To explore the molecular mechanisms of endocrine autonomy in these tumors, we performed... 
UBPY | ENDOSOMES | DOMAIN | PROTEIN | EPIDERMAL-GROWTH-FACTOR | GENETICS & HEREDITY | UBIQUITYLATION | DEGRADATION | RECEPTOR DOWN-REGULATION | ENDOCYTIC TRAFFICKING | PITUITARY-ADENOMAS | Adenoma - genetics | Humans | Neoplasm Proteins - physiology | Gene Expression Regulation, Neoplastic | Cercopithecus aethiops | Endosomal Sorting Complexes Required for Transport - genetics | Molecular Sequence Data | Pituitary Neoplasms - complications | ACTH-Secreting Pituitary Adenoma - complications | Pituitary ACTH Hypersecretion - genetics | ACTH-Secreting Pituitary Adenoma - genetics | Receptor, Epidermal Growth Factor - metabolism | Pituitary Neoplasms - secretion | Neoplasm Proteins - genetics | Pro-Opiomelanocortin - genetics | Amino Acid Sequence | ACTH-Secreting Pituitary Adenoma - metabolism | Pituitary Neoplasms - genetics | Ubiquitin Thiolesterase - physiology | Pituitary Neoplasms - metabolism | Ubiquitin Thiolesterase - genetics | 14-3-3 Proteins - metabolism | Adrenocorticotropic Hormone - secretion | Sequence Homology, Amino Acid | Exome - genetics | Sequence Alignment | Animals | Endopeptidases - genetics | ACTH-Secreting Pituitary Adenoma - secretion | Pro-Opiomelanocortin - biosynthesis | Mutation | COS Cells | Endosomal Sorting Complexes Required for Transport - physiology | Endopeptidases - physiology | Gene mutations | Cushing syndrome | Physiological aspects | Genetic aspects | Research | Ubiquitin-proteasome system | Health aspects | Risk factors | Pituitary gland | Kinases | Rodents | Genes | Tumors | Index Medicus
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7. Full Text A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1
by Fischer, Dirk and Schabhüttl, Maria and Wieland, Thomas and Windhager, Reinhard and Strom, Tim M and Auer-Grumbach, Michaela
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 7, pp. e286 - e286
Bone Diseases - genetics | Endoplasmic Reticulum - genetics | GTP Phosphohydrolases - genetics | Humans | Female | Hereditary Sensory and Autonomic Neuropathies - genetics | Male | Index Medicus | Abridged Index Medicus
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8. Full Text A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
by Zimprich, Fritz and Zimprich, Alexander and Benet-Pagès, Anna and Struhal, Walter and Graf, Elisabeth and Eck, Sebastian H and Offman, Marc N and Haubenberger, Dietrich and Spielberger, Sabine and Schulte, Eva C and Lichtner, Peter and Rossle, Shaila C and Klopp, Norman and Wolf, Elisabeth and Seppi, Klaus and Pirker, Walter and Presslauer, Stefan and Mollenhauer, Brit and Katzenschlager, Regina and Foki, Thomas and Hotzy, Christoph and Reinthaler, Eva and Harutyunyan, Ashot and Kralovics, Robert and Peters, Annette and Brücke, Thomas and Poewe, Werner and Auff, Eduard and Trenkwalder, Claudia and Rost, Burkhard and Ransmayr, Gerhard and Winkelmann, Juliane and Meitinger, Thomas and Strom, Tim M
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 168 - 175
To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. We... 
ENDOSOMES | COMMON LRRK2 MUTATION | GENE | VARIANTS | SERVER | GENETICS & HEREDITY | RISK | RECEPTORS | GENOME-WIDE ASSOCIATION | Haplotypes | Endosomes - genetics | Vesicular Transport Proteins - metabolism | Humans | Middle Aged | Vesicular Transport Proteins - genetics | Male | Mutation, Missense | Parkinson Disease - genetics | Endosomes - metabolism | Genetic Variation | trans-Golgi Network - metabolism | Hydrogen Bonding | Pedigree | Age of Onset | Aged, 80 and over | Adult | Female | Protein Conformation | Aged | Parkinson Disease - metabolism | Cohort Studies | Parkinson's disease | Gene mutations | Distribution | Causes of | Austrians | Genetic aspects | Diagnosis | Research | Golgi apparatus | Genotype & phenotype | Mutation | Medical screening | Parkinsons disease | Index Medicus | Missense mutation | Genotyping | Neurodegenerative diseases | endosomes | Retrograde transport | Alzheimer's disease | Age | Movement disorders | Report
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9. Full Text Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma
by Fernandes-Rosa, Fabio Luiz and Williams, Tracy Ann and Riester, Anna and Steichen, Olivier and Beuschlein, Felix and Boulkroun, Sheerazed and Strom, Tim M and Monticone, Silvia and Amar, Laurence and Meatchi, Tchao and Mantero, Franco and Cicala, Maria-Verena and Quinkler, Marcus and Fallo, Francesco and Allolio, Bruno and Bernini, Giampaolo and Maccario, Mauro and Giacchetti, Gilberta and Jeunemaitre, Xavier and Mulatero, Paolo and Reincke, Martin and Zennaro, Maria-Christina
Hypertension, ISSN 0194-911X, 08/2014, Volume 64, Issue 2, pp. 354 - 361
Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in... 
aldosteronism | mutation | adrenal cortex | mineralocorticoids | aldosterone | potassium channels | DIAGNOSIS | ADRENAL-CORTEX | ATP2B3 | ATP1A1 | PREVALENCE | SURGICALLY CORRECTABLE FORMS | KCNJ5 MUTATIONS | PERIPHERAL VASCULAR DISEASE | CHANNEL MUTATIONS | HYPERTENSION | EXPRESSION | Adrenal Cortex Neoplasms - complications | Genetic Predisposition to Disease | Sodium-Potassium-Exchanging ATPase - genetics | Age Factors | Genetic Association Studies | Plasma Membrane Calcium-Transporting ATPases - genetics | Humans | Middle Aged | Hyperaldosteronism - genetics | Male | G Protein-Coupled Inwardly-Rectifying Potassium Channels - genetics | Adrenocortical Adenoma - metabolism | Adrenal Cortex Neoplasms - genetics | Aldosterone - metabolism | Calcium Channels, L-Type - genetics | Hyperaldosteronism - etiology | Sex Factors | Adrenocortical Adenoma - genetics | Adult | Female | Potassium - blood | Mutation | Adrenocortical Adenoma - complications | Adrenal Cortex Neoplasms - metabolism | Index Medicus
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10. Full Text Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
by Lorenz-Depiereux, Bettina and Schnabel, Dirk and Tiosano, Dov and Häusler, Gabriele and Strom, Tim M
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 267 - 272
The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal... 
FGF23 | DMP1 | GENETICS & HEREDITY | Calcinosis - genetics | Familial Hypophosphatemic Rickets - enzymology | Amino Acid Sequence | Calcinosis - complications | Genes, Recessive - genetics | Humans | Pyrophosphatases - genetics | Child, Preschool | Molecular Sequence Data | Male | Phosphoric Diester Hydrolases - genetics | Pyrophosphatases - chemistry | Calcinosis - enzymology | Mutation - genetics | Phosphoric Diester Hydrolases - chemistry | Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics | Familial Hypophosphatemic Rickets - genetics | Pedigree | Sodium-Phosphate Cotransporter Proteins, Type IIc - genetics | Adolescent | Family | Female | Familial Hypophosphatemic Rickets - complications | Child | Hypophosphatemia | Genetic aspects | Research | Gene mutations | Phosphodiesterases | Babies | Phosphates | Genetic disorders | Calcium | Genes | Bones | Mutation | Index Medicus | Report
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11. Full Text An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
by Benet-Pagès, Anna and Orlik, Peter and Strom, Tim M and Lorenz-Depiereux, Bettina
Human Molecular Genetics, ISSN 0964-6906, 02/2005, Volume 14, Issue 3, pp. 385 - 390
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently,... 
PHOSPHATE | OSTEOMALACIA | MUTANT | VITAMIN-D METABOLISM | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PARATHYROID-HORMONE | DOMINANT HYPOPHOSPHATEMIC RICKETS | AUTOSOMAL-DOMINANT | EXPRESSION | Calcinosis - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Calcinosis - complications | Hypophosphatemia, Familial - complications | Humans | Cells, Cultured | Fibroblast Growth Factors - genetics | Homeostasis | Molecular Sequence Data | Male | Mutation, Missense | Sequence Homology, Amino Acid | Fibroblast Growth Factors - metabolism | Phenotype | Fibroblast Growth Factors - blood | Hypophosphatemia, Familial - genetics | N-Acetylgalactosaminyltransferases - genetics | Neoplasm Proteins - genetics | Child | Index Medicus
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12. Full Text Blue Diaper Syndrome andPCSK1Mutations
by Distelmaier, Felix and Herebian, Diran and Atasever, Claudia and Beck-Woedl, Stefanie and Mayatepek, Ertan and Strom, Tim M and Haack, Tobias B
Pediatrics, ISSN 0031-4005, 04/2018, Volume 141, Issue Supplement 5, pp. S501 - S505
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