UB Paderborn / Katalog / Suche / in CDI

1 – 18 von 18

Sortiert nach

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Clinical genetics, 2024-08, Vol.106 (2), p.127-139

2024

Volltextzugriff (PDF)

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Brain (London, England : 1878), 2019-06, Vol.142 (6), p.1528-1534

2019

Volltextzugriff (PDF)

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report

Ophthalmic genetics, 2024-02, Vol.45 (1), p.59-62

2024

Volltextzugriff (PDF)

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report

Ophthalmic Genetics, 2023, Vol.ahead-of-print (ahead-of-print), p.1-4

2023

Volltextzugriff (PDF)

Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association

Journal of Biochemical and Clinical Genetics, 2023, p.119-128

AlMoallem, Basamat

2023

Volltextzugriff (PDF)

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

American journal of human genetics, 2020-06, Vol.106 (6), p.859-871

2020

Volltextzugriff (PDF)

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

American journal of human genetics, 2020-09, Vol.107 (3), p.580-580

2020

Volltextzugriff (PDF)

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Scientific reports, 2020-01, Vol.10 (1), p.1289-1289, Article 1289

2020

Volltextzugriff (PDF)

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

Almoallem, Basamat

2022

Volltextzugriff (PDF)

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report

Ophthalmic Genetics, 2022, Vol.43 (3), p.425-429

2022

Volltextzugriff (PDF)

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report

Ophthalmic genetics, 2022-06, Vol.43 (3), p.425-429

2022

Volltextzugriff (PDF)

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

Investigative ophthalmology & visual science, 2015-02, Vol.56 (3), p.1701-1710

2015

Volltextzugriff (PDF)

Novel phenotype–genotype correlation with PEX6 gene in Saudi patients with Heimler syndrome

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

Almoallem, Basamat

2022

Volltextzugriff (PDF)

Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report

European journal of ophthalmology, 2022-01, Vol.32 (1), p.NP66-NP70

2022

Volltextzugriff (PDF)

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society, 2023, Vol.37 (4), p.307-309

Almoallem, Basamat M

2023

Volltextzugriff (PDF)

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations

Saudi journal of ophthalmology, 2023-10, Vol.37 (4), p.307-309

Almoallem, Basamat M

2023

Volltextzugriff (PDF)

Unique Roberts syndrome with bilateral congenital glaucoma: A case report

World journal of clinical cases, 2023, Vol.11 (19), p.4635-4639

2023

Volltextzugriff (PDF)

Unique Roberts syndrome with bilateral congenital glaucoma: A case report

World journal of clinical cases, 2023-07, Vol.11 (19), p.4635-4639

2023

Volltextzugriff (PDF)

1 – 18 von 18

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(13)
Mit Volltextzugriff
(18)

Publikationsform

Artikel
(14)
Berichte
(4)

Sprache

Englisch
(18)

Erscheinungsjahr

n.n

Thema

Science & Technology
(11)
Life Sciences & Biomedicine
(10)
Humans
(6)
Female
(5)
Genetics & Heredity
(5)
Male
(5)
Ophthalmology
(5)
Child
(4)
Adult
(3)
Ahr Gene
(3)
Child, Preschool
(3)
Foveal Hypoplasia
(3)
Genotypes
(3)
Infant
(3)
Mutation
(3)
Phenotypes
(3)
Adolescent
(2)
Aire Gene
(2)
Alleles
(2)
Autoimmune Polyglandular Syndrome Type 1
(2)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report

Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

Novel phenotype–genotype correlation with PEX6 gene in Saudi patients with Heimler syndrome

Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations

Unique Roberts syndrome with bilateral congenital glaucoma: A case report

Unique Roberts syndrome with bilateral congenital glaucoma: A case report

Suchergebnisse filtern