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Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 06/2008, Volume 128, Issue 13, p. 1547
Journal Article
1940, 3. Aufl., 296
Book
Klinische Pädiatrie, ISSN 0300-8630, 2008, Volume 220, Issue 1, pp. 26 - 28
Zusammenfassung Wir berichten über zwei Familien mit verschiedener Ausprägung eines Van-der-Woude-Syndroms und nachgewiesenen Mutationen im IRF6-Gen. Das... 
Kasuistik | Mutation of the IRF6-gene | Van-der-Woude Syndrome | Lower lip pits
Journal Article
Monatsschrift Kinderheilkunde, ISSN 0026-9298, 12/2001, Volume 149, Issue 12, pp. 1360 - 1365
Hintergrund. Die Glykogenose 1non-a ist durch einen Defekt des mikrosomalen Glukose-6-Phosphat-Transporters bedingt. Diagnostik. Aufgrund der kürzlich... 
Hepatomegaly | Schlüsselwörter Glykogenspeichererkrankung | Leukozyten | Enzymdefekt | Glycogen storage disease | Mutation | Leukocytes | Hepatomegalie | Enzyme defect
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2013, Volume 24, pp. S20 - S20
Journal Article
Zeitschrift für Psychosomatische Medizin und Psychotherapie, ISSN 1438-3608, 03/2004, Volume 50, Issue 2, pp. 171 - 189
Zusammenfassung Fragestellung: Viele Patienten gelangen auf dem Weg einer Vermittlung durch eine psychotherapeutisch-psychosomatische Klinikambulanz in... 
Journal Article
Gut, ISSN 0017-5749, 08/2016, Volume 65, Issue 8, pp. 1306 - 1313
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1021 - 1028
textabstractInfantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal... 
optic atrophy | basal ganglia | retinopathy | SCAR5 | WDR73 | cerebellar atrophy | Galloway–Mowat | intellectual disability | Cerebellar atrophy | Basal ganglia | Intellectual disability | Optic atrophy | Retinopathy | Galloway-Mowat | PROTEIN | ATROPHY | CONGENITAL CEREBELLAR-ATAXIA | PATTERNS | FAMILY | GENE | GALLOWAY-MOWAT-SYNDROME | GENETICS & HEREDITY | DISORDER | NEPHROTIC SYNDROME | CAMOS | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Microcephaly - genetics | Humans | Child, Preschool | Glomerulonephritis - diagnosis | Molecular Sequence Data | Male | Brain - abnormalities | Young Adult | Hernia, Hiatal - genetics | DNA Mutational Analysis | Nephrosis - diagnosis | Adult | Female | Child | Amino Acid Sequence | Genetic Association Studies | Glomerulonephritis - genetics | Microcephaly - diagnosis | Heredodegenerative Disorders, Nervous System - diagnosis | Nephrosis - genetics | Proteins - genetics | Phenotype | Sequence Alignment | Biopsy | Pedigree | Adolescent | Brain - pathology | Mutation | Proteins - chemistry | Hernia, Hiatal - diagnosis | Cohort Studies | Genetic aspects | Diagnostic imaging | Kidney diseases | Mental illness | Neurodegeneration | Intellectual disabilities | Life Sciences | Human health and pathology | Genetics | Human genetics | short stature | exome sequencing | Galloway-Mowat syndrome | recessive
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2017, Volume 92, Issue 1, pp. 86 - 90
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 285 - 293
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2015, Volume 112, Issue 40, pp. 12408 - 12413
Microvillus inclusion disease (MVID) is a rare intestinal enteropathy with an onset within a few days to months after birth, resulting in persistent watery... 
Mouse model|myosin vb|epithelila polarity | Intestinal enteropathy | Microvillus inclusion disease | RECOMBINATION | STEM-CELLS | mouse model | POLARITY | PHOSPHORYLATION | MEMBRANE | MULTIDISCIPLINARY SCIENCES | epithelila polarity | intestinal enteropathy | myosin Vb | EPITHELIAL-CELLS | EZRIN | microvillus inclusion disease | MICE | DIFFERENTIATION | MYO5B MUTATIONS | Immunohistochemistry | Epithelial Cells - metabolism | Enterocytes - metabolism | Humans | Male | Protein Transport - physiology | Intestines - metabolism | Malabsorption Syndromes - metabolism | Mucolipidoses - metabolism | Mice, Inbred CBA | Female | Enterocytes - pathology | Organ Culture Techniques | Disease Models, Animal | Microvilli - pathology | Microscopy, Electron, Transmission | Intestines - pathology | Myosin Type V - metabolism | Mice, Inbred C57BL | Epithelial Cells - ultrastructure | Epithelial Cells - pathology | Mice, Transgenic | Tamoxifen | Protein Transport - genetics | Mice, Knockout | Intestines - ultrastructure | Mucolipidoses - chemically induced | Microscopy, Confocal | Animals | Myosin Type V - genetics | Microvilli - metabolism | Microvilli - ultrastructure | Enterocytes - ultrastructure | Malabsorption Syndromes - chemically induced | Rare diseases | Colorectal diseases | Physiological aspects | Models | Gastrointestinal diseases | Myosin | Biological Sciences
Journal Article
Nature Communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, p. 11920
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes... 
TRANSCRIPTION FACTORS | COLLAGEN | OASIS | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | SITE-1 PROTEASE | IFAP SYNDROME | EXTRACELLULAR-MATRIX | ENDOPLASMIC-RETICULUM STRESS | CLEAVAGE | MISSENSE MUTATIONS
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2007, Volume 39, Issue 5, pp. 650 - 654
Journal Article