UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 28

Sortiert nach

Decoding of novel missense TSC2 gene variants using in-silico methods

BMC medical genetics, 2019-10, Vol.20 (1), p.164-164, Article 164

2019

Volltextzugriff (PDF)

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

Indian journal of ophthalmology, 2017-11, Vol.65 (11), p.1156-1160

2017

Volltextzugriff (PDF)

Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader

Indian journal of pediatrics, 2024-08, Vol.91 (8), p.801-805

2024

Volltextzugriff (PDF)

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians

Human mutation, 2007-05, Vol.28 (5), p.526-526

2007

Volltextzugriff (PDF)

Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature

Journal of pediatric endocrinology & metabolism : JPEM, 2020-01, Vol.33 (1), p.79

2020

Volltextzugriff (PDF)

A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome

European journal of medical genetics, 2023-09, Vol.66 (9), p.104822-104822, Article 104822

2023

Volltextzugriff (PDF)

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India

Gene, 2016-09, Vol.590 (1), p.109-119

2016

Volltextzugriff (PDF)

Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene

Haematologica (Roma), 2004-12, Vol.89 (12), p.1498

2004

Volltextzugriff (PDF)

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

Indian journal of medical research (New Delhi, India : 1994), 2017-02, Vol.145 (2), p.194

2017

Volltextzugriff (PDF)

Identification of a novel homozygous mutation in transmembrane channel like 1 ( TMC1 ) gene, one of the second-tier hearing loss genes after GJB2 in India

Indian journal of medical research (New Delhi, India : 1994), 2017-04, Vol.145 (4), p.492

2017

Volltextzugriff (PDF)

Validation of Polymerase Chain Reaction–Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients

Journal of child neurology, 2017-03, Vol.32 (4), p.371-378

2017

Volltextzugriff (PDF)

Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome: A Double-Blind, Randomized, Controlled Pilot Study

Journal of child neurology, 2013-05, Vol.28 (5), p.570-575

2013

Volltextzugriff (PDF)

Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population

Journal of pediatric genetics (Birmingham, Ala.), 2021-12, Vol.10 (4), p.274-283

2021

Volltextzugriff (PDF)

Recent advances in chromosome breakage syndromes and their diagnosis

Indian pediatrics, 2000-06, Vol.37 (6), p.615-625

2000

Volltextzugriff (PDF)

Factor IX gene polymorphisms in Indian population

American journal of hematology, 2001-12, Vol.68 (4), p.246-248

2001

Volltextzugriff (PDF)

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

Molecular cytogenetics, 2014-01, Vol.7 (Suppl 1), p.P127-P127

2014

Volltextzugriff (PDF)

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population

Molecular cytogenetics, 2014-01, Vol.7 (Suppl 1), p.P70-P70

2014

Volltextzugriff (PDF)

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online

Human mutation, 2007-05, Vol.28 (5), p.526

2007

Volltextzugriff (PDF)

Chapter 24 - Role of Cytogenetics and Molecular Genetics in Human Health and Medicine

Animal Biotechnology, 2014, p.451-472

2014

Volltextzugriff (PDF)

Improved method for study of chromosomes of chorionic villus samples

Indian journal of medical research (New Delhi, India : 1994), 1996-10, Vol.104, p.269

1996

Volltextzugriff (PDF)

Visible light active Fe doped TiO2 nanowires grown on graphene using supercritical CO2

Applied catalysis. B, Environmental, 2011-11, Vol.110, p.25-32

2011

Volltextzugriff (PDF)

Photodegradation of 17β-estradiol in aquatic solution under solar irradiation: Kinetics and influencing water parameters

Journal of photochemistry and photobiology. A, Chemistry., 2011-03, Vol.219 (1), p.67-75

2011

Volltextzugriff (PDF)

Photodegradation of Estrone in Solar Irradiation

Industrial & engineering chemistry research, 2010-08, Vol.49 (15), p.6923-6930

2010

Volltextzugriff (PDF)

Effectiveness of common macrophytes for phytoremediation of hexavalent Cr prevalent in chromite mining areas

International journal of phytoremediation, 2022, Vol.24 (8), p.787-795

2022

Volltextzugriff (PDF)

Physical and mental health among older parents: Does offspring migration and living arrangement matter? Findings from Longitudinal Aging Survey in India (2017-18)

SSM - population health, 2023-12, Vol.24, p.101503-101503, Article 101503

2023

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(27)
Mit Volltextzugriff
(22)

Publikationsform

Artikel
(27)
Buchkapitel
(1)

Sprache

Englisch
(28)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Decoding of novel missense TSC2 gene variants using in-silico methods

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians

Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature

A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India

Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

Identification of a novel homozygous mutation in transmembrane channel like 1 ( TMC1 ) gene, one of the second-tier hearing loss genes after GJB2 in India

Validation of Polymerase Chain Reaction–Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients

Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome: A Double-Blind, Randomized, Controlled Pilot Study

Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population

Recent advances in chromosome breakage syndromes and their diagnosis

Factor IX gene polymorphisms in Indian population

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online

Chapter 24 - Role of Cytogenetics and Molecular Genetics in Human Health and Medicine

Improved method for study of chromosomes of chorionic villus samples

Visible light active Fe doped TiO2 nanowires grown on graphene using supercritical CO2

Photodegradation of 17β-estradiol in aquatic solution under solar irradiation: Kinetics and influencing water parameters

Photodegradation of Estrone in Solar Irradiation

Effectiveness of common macrophytes for phytoremediation of hexavalent Cr prevalent in chromite mining areas

Physical and mental health among older parents: Does offspring migration and living arrangement matter? Findings from Longitudinal Aging Survey in India (2017-18)

Suchergebnisse filtern