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1. Full Text Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
by Rajab, Anna and Straub, Volker and McCann, Liza J and Seelow, Dominik and Varon, Raymonda and Barresi, Rita and Schulze, Anne and Lucke, Barbara and Lützkendorf, Susanne and Karbasiyan, Mohsen and Bachmann, Sebastian and Spuler, Simone and Schuelke, Markus
PLoS Genetics, ISSN 1553-7390, 03/2010, Volume 6, Issue 3, p. e1000874
We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death... 
SKELETAL-MUSCLE | CELLS | ADIPOCYTES | GENE | NITRIC-OXIDE SYNTHASE | DISEASE | GENETICS & HEREDITY | SURFACE | CAVEOLAE | IDENTIFICATION | CHILDREN | Long QT Syndrome - complications | RNA-Binding Proteins - genetics | Lipodystrophy, Congenital Generalized - genetics | Caveolae - ultrastructure | Humans | Molecular Sequence Data | Male | Fibroblasts - ultrastructure | Muscles - pathology | Oman | Caveolae - pathology | Lipodystrophy, Congenital Generalized - pathology | DNA Mutational Analysis | Base Sequence | Fatal Outcome | Female | Child | Arrhythmias, Cardiac - genetics | Infant, Newborn | Adipose Tissue - pathology | Lipodystrophy, Congenital Generalized - complications | Fibroblasts - pathology | Mutation - genetics | Homozygote | Phenotype | Pedigree | Adolescent | Long QT Syndrome - genetics | Family | Arrhythmias, Cardiac - complications | Long QT syndrome | Development and progression | Lipodystrophy | Genetic aspects | Gene mutations | Identification and classification | Proteins | Cardiac arrhythmia | Biosynthesis | Microscopy | Patients | Genes
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2. Full Text Epigenetic Clock and Relative Telomere Length Represent Largely Different Aspects of Aging in the Berlin Aging Study II (BASE-II)
by Vetter, Valentin Max and Meyer, Antje and Karbasiyan, Mohsen and Steinhagen-Thiessen, Elisabeth and Hopfenmüller, Werner and Demuth, Ilja
The Journals of Gerontology: Series A, ISSN 1079-5006, 01/2019, Volume 74, Issue 1, pp. 27 - 32
Abstract DNA methylation age (DNAm age; “epigenetic clock”) has recently been described as highly correlated with chronological age. Several studies suggest... 
Epigenetic clock | BASE-II | Berlin Aging Study II | Telomere length | DNA methylation age | DNA METHYLATION | DISEASE | GERONTOLOGY | TIME | AGE | GERIATRICS & GERONTOLOGY
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3. Full Text The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
by Seemanova, Eva and Varon, Raymonda and Vejvalka, Jan and Jarolim, Petr and Seeman, Pavel and Chrzanowska, Krystyna H and Digweed, Martin and Resnick, Igor and Kremensky, Ivo and Saar, Kathrin and Hoffmann, Katrin and Dutrannoy, Véronique and Karbasiyan, Mohsen and Ghani, Mehdi and Barić, Ivo and Tekin, Mustafa and Kovacs, Peter and Krawczak, Michael and Reis, André and Sperling, Karl and Nothnagel, Michael
PLoS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, p. e0167984
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657de15; rs587776650) in the NBN... 
DEFECTIVE RESPONSE | HUMAN GENOME | FEMALE FERTILITY | NIJMEGEN BREAKAGE SYNDROME | MULTIDISCIPLINARY SCIENCES | CANCER-RISK | DOUBLE-STRAND BREAKS | 657DEL5 MUTATION | MAP-O-MAT | NBS1 GENE | CLINICAL-MANIFESTATION | Research | Diagnosis | Gene mutations | Nijmegen breakage syndrome | Pediatrics | Recombination | Populations | Authorship | Laboratories | DNA damage | Genomes | Gene deletion | Males | DNA repair | Abortion | Medical schools | Ovarian cancer | Reproduction | Clonal deletion | Fertility | Breeding success | Deletion | Genetics | Children | Repair | Chromosomes | Informatics | Deoxyribonucleic acid--DNA | BRCA2 protein | BRCA1 protein | Health risks | Meiosis | Breast cancer | Chromosome deletion | Gene expression | Embryos | Carriers | Hospitals | Heterozygote advantage | Breakage | Chromosome 8 | Mutation | Miscarriage | Fitness | Cancer | Deoxyribonucleic acid | DNA
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4. Full Text Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: The WASH complex member swip
by Ropers, Fabienne and Derivery, Emmanuel and Hu, Hao and Garshasbi, Masoud and Karbasiyan, Mohsen and Herold, Martin and Nürnberg, Gudrun and Ullmann, Reinhard and Gautreau, Alexis and Sperling, Karl and Varon, Raymonda and Rajab, Anna
Human Molecular Genetics, ISSN 0964-6906, 07/2011, Volume 20, Issue 13, pp. 2585 - 2590
High-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but compared with X-linked and autosomal dominant diseases, the search... 
ENCODES | PROTEIN | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEFECT | GENETICS & HEREDITY | ARP2/3 COMPLEX | NONSYNDROMIC MENTAL-RETARDATION | MUTATIONS | EXPRESSION | DOMAINS | FAMILY | Cell Line | NIH 3T3 Cells | Exons | Genes, Recessive - genetics | Humans | Male | Mutation - genetics | Intellectual Disability - genetics | Proteins - genetics | Homozygote | Animals | Pedigree | Cell Line, Tumor | Polymorphism, Single Nucleotide - genetics | Female | Consanguinity | Mice | Genetic Linkage - genetics
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5. Full Text Spectrum of mutations and genotype - Phenotype analysis in Currarino syndrome
by Köchling, Joachim and Karbasiyan, Mohsen and Reis, André
European Journal of Human Genetics, ISSN 1018-4813, 2001, Volume 9, Issue 8, pp. 599 - 605
The triad of a presacral tumour, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning... 
Genotype-phenotype correlation | Currarino syndrome | DNA-binding specificity | NLS motif | HLXB9 mutations | Mutational predilection sites | SPECIFICITY | EXPANSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | genotype-phenotype correlation | TRANSCRIPTION | INVOLVEMENT | HOMEODOMAIN PROTEINS | NUCLEAR-LOCALIZATION SIGNAL | DROSOPHILA | DOMINANT SACRAL AGENESIS | HLXB9 | GENETICS & HEREDITY | HOMEOBOX GENE | mutational predilection sites | Drosophila Proteins | Humans | Molecular Sequence Data | Genotype | Male | Sacrum - abnormalities | Amino Acid Sequence - genetics | Transcription Factors - genetics | DNA Mutational Analysis - methods | Mutation - genetics | Homeodomain Proteins - genetics | Syndrome | Rectum - abnormalities | Anal Canal - abnormalities | Phenotype | Pedigree | Female | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Pattern formation | Phenotypes | Transcription factors | Nuclear magnetic resonance--NMR | Nucleotide sequence | Congenital defects | Genes | Homology | Anorectal | Dominant traits | Nuclear transport | Homeobox | Proteins | Embryogenesis | Sacrum | Insects | Genetics | Mutation | Genetic testing | Protein transport | Localization | Genotypes | Deoxyribonucleic acid--DNA | Tumors
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6. Full Text Fc [gamma] -Receptor IIIA Polymorphism p.158F Has No Negative Predictive Impact on Rituximab Therapy with and without Sequential Chemotherapy in CD20-Positive Posttransplant Lymphoproliferative Disorder
by Heiner Zimmermann and Theresa Weiland and Jamie P. Nourse and Maher K. Gandhi and Petra Reinke and Ruth Neuhaus and Mohsen Karbasiyan and Barbara Gärtner and Ioannis Anagnostopoulos and Hanno Riess and Ralf U. Trappe and Stephan Oertel
Journal of Immunology Research, ISSN 2314-8861, 01/2014, Volume 2014
  We retrospectively analyzed the p.V158F polymorphism of Fcγ-receptor IIIA (FCGR3A, CD16) in patients with PTLD treated with rituximab monotherapy. Previous... 
Competition | Genotype & phenotype | Automation | Chemotherapy | Transplants & implants | Hematology | Response rates | Cytotoxicity | Lymphomas | Multivariate analysis | Steroids | Polymorphism
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7. Full Text Fc γ -receptor IIIA polymorphism p.158F has no negative predictive impact on rituximab therapy with and without sequential chemotherapy in CD20-positive posttransplant lymphoproliferative disorder
by Zimmermann, Heiner and Weiland, Theresa and Nourse, Jamie P and Gandhi, Maher K and Reinke, Petra and Neuhaus, Ruth and Karbasiyan, Mohsen and Gärtner, Barbara and Anagnostopoulos, Ioannis and Riess, Hanno and Trappe, Ralf U and Oertel, Stephan
Journal of Immunology Research, ISSN 2314-8861, 2014, Volume 2014, pp. 264723 - 6
We retrospectively analyzed the p.V158F polymorphism of Fc gamma-receptor IIIA (FCGR3A, CD16) in patients with PTLD treated with rituximab monotherapy.... 
DEPENDENT CYTOTOXICITY | NATURAL-KILLER-CELLS | FCGR3A | GENOTYPE | IN-VIVO | AZATHIOPRINE | PHENOTYPE | FOLLICULAR LYMPHOMA | MONOCLONAL-ANTIBODY | TRANSPLANT RECIPIENTS | IMMUNOLOGY | Gene Frequency | Humans | Middle Aged | Rituximab | Genotype | Male | Treatment Outcome | Antineoplastic Agents - therapeutic use | Case-Control Studies | Polymorphism, Genetic | Young Adult | Receptors, IgG - genetics | Organ Transplantation - adverse effects | Adolescent | Alleles | Adult | Female | Lymphoproliferative Disorders - drug therapy | Aged | Immunocompromised Host | Lymphoproliferative Disorders - etiology | Antibodies, Monoclonal, Murine-Derived - therapeutic use | Clinical Study
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8. Full Text The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
by Seemanova, Eva and Varon, Raymonda and Vejvalka, Jan and Jarolim, Petr and Seeman, Pavel and Chrzanowska, Krystyna H and Digweed, Martin and Resnick, Igor and Kremensky, Ivo and Saar, Kathrin and Hoffmann, Katrin and Dutrannoy, Véronique and Karbasiyan, Mohsen and Ghani, Mehdi and Barić, Ivo and Tekin, Mustafa and Kovacs, Peter and Krawczak, Michael and Reis, André and Sperling, Karl and Nothnagel, Michael
PloS one, 2016, Volume 11, Issue 12, p. e0167984
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN... 
Haplotypes | Humans | Middle Aged | Reproduction - genetics | Male | Nijmegen Breakage Syndrome - ethnology | Nijmegen Breakage Syndrome - genetics | Founder Effect | Czech Republic | DNA Repair | Cell Cycle Proteins - genetics | Adult | Female | DNA Damage | Mutation | Slovakia | Nuclear Proteins - genetics | Genetic Carrier Screening | Cohort Studies
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9. Full Text Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
: e1000874
by Anna Rajab and Volker Straub and Liza J McCann and Dominik Seelow and Raymonda Varon and Rita Barresi and Anne Schulze and Barbara Lucke and Susanne Lützkendorf and Mohsen Karbasiyan and Sebastian Bachmann and Simone Spuler and Markus Schuelke
PLoS Genetics, ISSN 1553-7390, 03/2010, Volume 6, Issue 3
  We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death... 
Proteins | Cardiac arrhythmia | Microscopy | Genes | Biosynthesis | Patients
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10. Full Text Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B
by Storch, Maria and Burkhardt, Elke and Moss, Jennifer A and Ivanova, Silva and Reis, André and Harrison, Ruth and Maerk, Isabel and Karbasiyan, Mohsen and Lassmann, Hans and Höger, Harald and Davison, Keith and Bittner, Reginald E and Jung, Martin and Vafiadaki, Elizabeth and Raffelsberger, Thomas and Bushby, Kate M.D and Anderson, Louise V.B and Bashir, Rumaisa
Nature Genetics, ISSN 1061-4036, 10/1999, Volume 23, Issue 2, pp. 141 - 142
The SJL mouse strain is susceptible to many induced autoimmune diseases such as experimental autoimmune encephalitis (EAE) and inflammatory muscle disease.... 
MIYOSHI MYOPATHY | SKELETAL-MUSCLE | GENE | MOUSE | GENETICS & HEREDITY | Muscular Dystrophy, Animal - genetics | Sequence Deletion | Mice, Inbred C57BL | Dysferlin | Male | Muscle, Skeletal - metabolism | Mice, Inbred Strains | Muscular Dystrophy, Animal - pathology | Mice, Inbred C3H | Membrane Proteins | Muscle Proteins - genetics | Animals | Female | Mice | Mice, Inbred BALB C | Muscle, Skeletal - pathology | Disease Models, Animal
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11. Full Text QF-PCR as a molecular-based method for autosomal aneuploidies detection
by Moftah, Reham and Marzouk, Salah and El-Kaffash, Dalal and Varon, Raymonda and Bommer, Christiane and Karbasiyan, Mohsen and Neitzel, Heidemarie
Advances in Reproductive Sciences, ISSN 2330-0744, 2013, Volume 1, Issue 3, pp. 21 - 28
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12. Full Text Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen Syndrome
by Hennies, Hans Christian and Rauch, Anita and Seifert, Wenke and Schumi, Christian and Moser, Elisabeth and Al-Taji, Eva and Tariverdian, Gholamali and Chrzanowska, Krystyna H and Krajewska-Walasek, Malgorzata and Rajab, Anna and Giugliani, Roberto and Neumann, Thomas E and Eckl, Katja M and Karbasiyan, Mohsen and Reis, André and Horn, Denise
American Journal of Human Genetics, ISSN 0002-9297, 2004, Volume 75, Issue 1, pp. 138 - 145
Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation,... 
LOCALIZATION | PROTEIN | MENTAL-RETARDATION | DATABASE | GENETICS & HEREDITY | HOLMES-WALTON SYNDROME | NATURAL-HISTORY | KEX2P | DEGENERATION | FEATURES | Abnormalities, Multiple - pathology | Chromosomes, Human, Pair 8 - genetics | Microcephaly - genetics | Humans | Abnormalities, Multiple - ethnology | Child, Preschool | Male | Developmental Disabilities - genetics | Phylogeny | Microcephaly - ethnology | Intellectual Disability - genetics | Genetic Variation | Developmental Disabilities - pathology | Microcephaly - pathology | Adult | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Microsatellite Repeats | Intellectual Disability - ethnology | Vesicular Transport Proteins | Membrane Proteins - genetics | Gene Frequency | Intellectual Disability - pathology | Genotype | Mutation - genetics | Syndrome | Craniofacial Abnormalities - ethnology | Pedigree | Adolescent | Developmental Disabilities - ethnology | Human genetics | Research
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13. Full Text Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
by Volk, Alexander and Karbasiyan, Mohsen and Semmler, Alexander and Todt, Unda and Urbach, Horst and Klockgether, Thomas and Linnebank, Michael
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 03/2007, Volume 79, Issue 3, pp. 249 - 251
BACKGROUND: The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and... 
HLXB9 | mutation | Currarino syndrome | genes, homeobox | Mutation | Genes, homeobox | genes | homeobox | DEVELOPMENTAL BIOLOGY | TOXICOLOGY | SACRAL AGENESIS | HOMEOBOX GENE | Frameshift Mutation | Lumbar Vertebrae - diagnostic imaging | Humans | Male | Sacrum - abnormalities | Headache - diagnosis | Transcription Factors - genetics | Meningocele - pathology | Pelvis - diagnostic imaging | Homeodomain Proteins - genetics | Low Back Pain - diagnosis | Syndrome | Anal Canal - abnormalities | Radiography | Hirschsprung Disease - diagnosis | Magnetic Resonance Imaging | Abnormalities, Multiple - diagnosis | Adult | Abnormalities, Multiple - genetics
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14. Full Text Adult index patient with Currarino syndrome due to a novelHLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
by Volk, Alexander and Karbasiyan, Mohsen and Semmler, Alexander and Todt, Unda and Urbach, Horst and Klockgether, Thomas and Linnebank, Michael
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 03/2007, Volume 79, Issue 3, pp. 249 - 251
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15. Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
by Volk, Alexander and Karbasiyan, Mohsen and Semmler, Alexander and Todt, Unda and Urbach, Horst and Klockgether, Thomas and Linnebank, Michael
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 03/2007, Volume 79, Issue 3, pp. 249 - 251
BACKGROUND: The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and... 
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16. Full Text Genetic deafness in a preterm infant with a critical postnatal course
by Koehne, Petra S and Hüseman, Dieter and Walch, Elisabeth and Schuelke, Markus and Varon, Raymonda and Karbasiyan, Mohsen and Aust, Gottfried and Obladen, Michael
Pediatric Critical Care Medicine, ISSN 1529-7535, 2006, Volume 7, Issue 3, pp. 270 - 272
Objective: We present a case of deafness in a preterm infant with several predisposing factors of an acquired hearing impairment that, however, turned out to... 
GJB2 gene | Connexin | Genetic deafness | Preterm infant | 1555A→G mutation | Hearing impairment | genetic deafness | 1555A -> G mutation | hearing impairment | PEDIATRICS | preterm infant | connexin | CRITICAL CARE MEDICINE | Deafness - genetics | Genetic Testing | DNA Mutational Analysis | Humans | Infant, Premature | Risk Factors | Connexins - genetics | Male | Infant, Newborn
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17. Full Text Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome
by Hennies, Hans Christian and Rauch, Anita and Seifert, Wenke and Schumi, Christian and Moser, Elisabeth and Al-Taji, Eva and Tariverdian, Gholamali and Chrzanowska, Krystyna H and Krajewska-Walasek, Malgorzata and Rajab, Anna and Giugliani, Roberto and Neumann, Thomas E and Eckl, Katja M and Karbasiyan, Mohsen and Reis, André and Horn, Denise
The American Journal of Human Genetics, ISSN 0002-9297, 2004, Volume 75, Issue 1, pp. 138 - 145
Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation,... 
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