UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Use of drugs not listed in the National List of Essential Medicines: Findings from a prescription analysis by the Indian Council of Medical Research-Rational Use of Medicines Centres Network in tertiary care hospitals across India

Indian journal of pharmacology, 2022-11, Vol.54 (6), p.407-416

2022

Volltextzugriff (PDF)

Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern

Clinical genetics, 2023-10, Vol.104 (4), p.443-460

2023

Volltextzugriff (PDF)

ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63592-n/a

2024

Volltextzugriff (PDF)

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1190-1200

2020

Volltextzugriff (PDF)

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

The Cleft palate-craniofacial journal, 2022-11, Vol.59 (11), p.1329-1339

2022

Volltextzugriff (PDF)

Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis

Prenatal diagnosis, 2021-10, Vol.41 (11), p.1414-1424

2021

Volltextzugriff (PDF)

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Indian journal of pediatrics, 2020-03, Vol.87 (3), p.175-178

2020

Volltextzugriff (PDF)

Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome

Pediatric neurology, 2017-05, Vol.70, p.61-66

2017

Volltextzugriff (PDF)

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Journal of human genetics, 2019-10, Vol.64 (10), p.985-994

2019

Volltextzugriff (PDF)

Techniques Based on Metaheuristics Combined with an Adaptive Neurofuzzy System and Seismic Sensors for the Prediction of Earthquakes

Journal of sensors, 2023-02, Vol.2023 (1)

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)

National newborn screening program — Still a hype or a hope now?

Indian pediatrics, 2013-07, Vol.50 (7), p.639-643

2013

Volltextzugriff (PDF)

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

Neuromuscular disorders : NMD, 2021-05, Vol.31 (5), p.431-441

2021

Volltextzugriff (PDF)

Management of Infants with Congenital Adrenal Hyperplasia

Indian pediatrics, 2020-02, Vol.57 (2), p.159-164

2020

Volltextzugriff (PDF)

Active surveillance for intussusception in a phase III efficacy trial of an oral monovalent rotavirus vaccine in India

Vaccine, 2014-08, Vol.32, p.A104-A109

2014

Volltextzugriff (PDF)

Prescription-based cost analysis of medicines for cardiovascular risk factors at Indian Council of Medical Research-Rational Use of Medicine Centre Hospitals of India

Indian journal of pharmacology, 2024-03, Vol.56 (2), p.97-104

2024

Volltextzugriff (PDF)

Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

BMC pediatrics, 2016-05, Vol.16 (66), p.66-66, Article 66

2016

Volltextzugriff (PDF)

Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss

Indian journal of medical research (New Delhi, India : 1994), 2018-06, Vol.147 (6), p.615

2018

Volltextzugriff (PDF)

Identification of GJB6 gene mutation in an Indian man with Clouston syndrome

Indian journal of dermatology, venereology, and leprology, 2016-11, Vol.82 (6), p.697-700

2016

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)

High Risk Stratified Neonatal Screening

Indian journal of pediatrics, 2018-12, Vol.85 (12), p.1050-1054

ICMR Task Force on Inherited Metabolic Disorders

2018

Volltextzugriff (PDF)

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1482-1489

2014

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)

1 – 25 von 54

Suche als RSS-Feed

Aktive Filter

ThemaIndia

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(51)
Mit Volltextzugriff
(45)

Publikationsform

Artikel
(54)

Sprache

Englisch
(54)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Use of drugs not listed in the National List of Essential Medicines: Findings from a prescription analysis by the Indian Council of Medical Research-Rational Use of Medicines Centres Network in tertiary care hospitals across India

Efficacy of a monovalent human-bovine (116E) rotavirus vaccine in Indian infants: a randomised, double-blind, placebo-controlled trial

Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern

ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Techniques Based on Metaheuristics Combined with an Adaptive Neurofuzzy System and Seismic Sensors for the Prediction of Earthquakes

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

National newborn screening program — Still a hype or a hope now?

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

Management of Infants with Congenital Adrenal Hyperplasia

Active surveillance for intussusception in a phase III efficacy trial of an oral monovalent rotavirus vaccine in India

Prescription-based cost analysis of medicines for cardiovascular risk factors at Indian Council of Medical Research-Rational Use of Medicine Centre Hospitals of India

Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss

Identification of GJB6 gene mutation in an Indian man with Clouston syndrome

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

High Risk Stratified Neonatal Screening

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

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

Aktive Filter

Suchergebnisse filtern