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Search for publications relevant for "consanguinity"
consanguinity
Publication
Class
Person
Publication
Programmes
publication
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
2024 |
Second Faculty of Medicine
publication
Louis-Bar Syndrome of Ataxia Telangiectasia in Consanguinous Family
2006 |
Second Faculty of Medicine
publication
The invaluable role of consanguinity in providing insight into paediatric endocrine conditions: Lessons learned from congenital hyperinsulinism, monogenic diabetes, and short stature
2022 |
Second Faculty of Medicine
publication
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Phantom of consanguineousness
1999 |
Faculty of Science
publication
Congenital hyperinsulinism caused by novel homozygous katp channel gene variants may be linked to unexplained neonatal deaths among kurdish consanguineous families
2020 |
Second Faculty of Medicine
publication
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
2012 |
Second Faculty of Medicine, Central Library of Charles University
publication
Appreciating the otherness
2022 |
Faculty of Social Sciences
publication
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
2023 |
Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Pilsen
publication
150 Years of Anthropology: Tylor, Morgan and Miklouho-Maclay or Culture, Comparison and Field Research in 1871
2021 |
Faculty of Social Sciences
publication
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
2006 |
Second Faculty of Medicine
publication
Evidence of occupational following among politicians in Victoria
2015 |
Faculty of Arts
publication
Reflexion of Institutions of Roman Law of Persons in Modern Codifications
2015 |
Faculty of Law
publication
The Power of kith and kin: Empirical evidence of kin among public administrators, judges and notaries, in the Czech Republic
2016 |
Faculty of Arts
publication
Biological relationships and frontal sinus similarity in skeletal remains with known genealogical data
2020 |
Faculty of Science, First Faculty of Medicine
publication
A progressive KY myopathy could be caused by a missense pathogenic variant
2023 |
Second Faculty of Medicine
publication
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy
2015 |
Central Library of Charles University, First Faculty of Medicine
publication
Kinship terminology in Czech Sign Language
2016 |
Faculty of Arts
publication
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome
2006 |
Publication without faculty affiliation
publication
Psycho-organic symptoms as early manifestation of adult onset POMT1 - related limb girdle muscular dystrophy
2014 |
Second Faculty of Medicine
publication
Recessive ITPA Mutations Cause an Early Infantile Encephalopathy
2015 |
First Faculty of Medicine
publication
Joint Closing Workshop of the IGCP/UNESCO/SIDA Projects 594 and 606
2014 |
Faculty of Science
publication
Women of Abencerrajes (Ibn al-Sarrāj): Kinship Strategies in Fifteenth Century Granada
2023 |
Faculty of Arts
publication
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population
2012 |
Second Faculty of Medicine
publication
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity
2000 |
Central Library of Charles University
publication
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
2017 |
Second Faculty of Medicine
publication
Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition
2002 |
Central Library of Charles University
publication
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
2015 |
Second Faculty of Medicine
publication
Franz Köstl, the first-ever professor of psychiatry in Prague (on ocassion of the 200th birth anniversary)
2011 |
Third Faculty of Medicine
publication
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
2022 |
Second Faculty of Medicine