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Search for publications relevant for "genetic diagnosis"
genetic diagnosis
Publication
Class
Person
Publication
Programmes
publication
Commentary: Preimplantation genetic diagnosis
2009 |
Second Faculty of Medicine
publication
Preimplantation genetic diagnosis and monogenic inherited eye diseases
2016 |
First Faculty of Medicine
publication
Repeated miscarriages in patients with antiphospholipid syndrome and subjected to in vitro fertilization: the importance of preimplantation genetic diagnosis
2012 |
Faculty of Medicine in Pilsen
publication
Commentary: Preimplantation Genetic Diagnosis
2009 |
First Faculty of Medicine
publication
Methods in contemporary genetic diagnosis
2000 |
First Faculty of Medicine
publication
Twenty Five of experience with prenatal genetic diagnosis.
1997 |
Faculty of Physical Education and Sport
publication
Introduction of molecular genetic diagnosis in syndromes with a hearing defect
1998 |
Second Faculty of Medicine
publication
Clinical and genetic diagnosis in Gitelman´s syndrome
Publication without faculty affiliation
publication
Twenty five years of experience with prenatal genetic diagnosis
1997 |
Central Library of Charles University, Second Faculty of Medicine
publication
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
2008 |
Second Faculty of Medicine
publication
Prerequisites for preimplantation genetic diagnosis (PGD in carriers of mutations responsible for hereditary cancers
2009 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Molecular genetic diagnosis of polycystic kidney disease and autosomal dominant type
2002 |
Publication without faculty affiliation
publication
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment
2023 |
First Faculty of Medicine
publication
Pendred syndrome in patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurence of phenocopies
2008 |
Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Current possibilities of prenatal and postnatal molecular genetic diagnosis of cystic fibrosis in the Czech and Slovak Republics
1997 |
Central Library of Charles University, Second Faculty of Medicine
publication
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
2009 |
Second Faculty of Medicine
publication
Molecular genetic diagnosis of congenital contracture arachnodactyly and complex treatment of a Czech girl: a case study
2023 |
First Faculty of Medicine
publication
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
2018 |
Second Faculty of Medicine
publication
Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension
2020 |
First Faculty of Medicine
publication
Genetic heterogeneity in infantile spasms
2019 |
Second Faculty of Medicine
publication
New options of expensive pneumo-oncological therapy for advanced non-small-cell lung carcinoma (NSCLC) in the first line based on morphological and molecular genetic diagnosis in the Czech Republic
2012 |
Faculty of Medicine in Pilsen, Central Library of Charles University, First Faculty of Medicine
publication
New emerging entities: renal tumors described after WHO Classification 2016
2020 |
Faculty of Medicine in Pilsen
publication
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
2020 |
Second Faculty of Medicine
publication
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
2013 |
First Faculty of Medicine
publication
Contemporary State of the Diagnosis of Cystic Fibrosis
1999 |
Second Faculty of Medicine
publication
Alports's Syndrome and Benign Familial Haematuria
1999 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
To assess the PGD results in couples with robertsonian and reciprocal translocations
2011 |
Central Library of Charles University, Third Faculty of Medicine
publication
Cutaneous Lmyphomas: An Update. Part 1: T-Cell and Natural Killer/T-Cell Lymphomas and Related Conditions
2014 |
Faculty of Medicine in Pilsen
publication
Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics
1999 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Cutaneous Lymphomas: An Update. Part 2: B-Cell Lymphomas and Related Conditions
2014 |
Faculty of Medicine in Pilsen