UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 59

Sortiert nach

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T)

Journal of clinical medicine, 2018-05, Vol.7 (5), p.105

Gumus, Evren

2018

Volltextzugriff (PDF)

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019-07, Vol.37 (3), p.150-153

Gumus, Evren

2019

Volltextzugriff (PDF)

Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report

Iranian journal of public health, 2019-11, Vol.48 (11), p.2079-2082

Gumus, Evren

2019

Volltextzugriff (PDF)

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1603-1608

2019

Volltextzugriff (PDF)

A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100877-100877, Article 100877

2022

Volltextzugriff (PDF)

A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1691-1699

2021

Volltextzugriff (PDF)

Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation

European journal of medical genetics, 2020-01, Vol.63 (1), p.103637-103637, Article 103637

Gumus, Evren

2020

Volltextzugriff (PDF)

Comparison of two groups for the apolipoprotein E polymorphisms by using next generation sequencing: The first group with three consecutive abortions and the second group with at most one abortion in three consecutive pregnancies

Gene, 2018-08, Vol.668, p.8-11

Gumus, Evren

2018

Volltextzugriff (PDF)

A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay

Fetal and pediatric pathology, 2019-05, Vol.38 (3), p.239-244

Gumus, Evren

2019

Volltextzugriff (PDF)

A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay

Cell journal (Yakhteh), 2020-04, Vol.22 (1), p.128-132

Gumus, Evren

2020

Volltextzugriff (PDF)

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

Ophthalmic genetics, 2018-06, Vol.39 (3), p.391-395

Gumus, Evren

2018

Volltextzugriff (PDF)

The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss

Ginekologia polska, 2018-01, Vol.89 (10), p.573-576

Gumus, Evren

2018

Volltextzugriff (PDF)

A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

Journal of pediatric genetics (Birmingham, Ala.), 2019-09, Vol.8 (3), p.168-171

Gumus, Evren

2019

Volltextzugriff (PDF)

A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis

Fetal and pediatric pathology, 2020-05, Vol.39 (3), p.251-258

2020

Volltextzugriff (PDF)

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

Pain (Amsterdam), 2022-07, Vol.163 (7), p.e882-e887

2022

Volltextzugriff (PDF)

Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Annals of human genetics, 2021-01, Vol.85 (1), p.27-36

2021

Volltextzugriff (PDF)

Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”

Annals of human genetics, 2021-05, Vol.85 (3-4), p.103-104

2021

Volltextzugriff (PDF)

An epilepsy‐associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

Journal of neuroscience research, 2021-01, Vol.99 (1), p.110-123

2021

Volltextzugriff (PDF)

Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration

Neuron (Cambridge, Mass.), 2022-04, Vol.110 (8), p.1340-1357.e7

2022

Volltextzugriff (PDF)

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

Journal of pediatric intensive care, 2022-03, Vol.11 (1), p.062-066

2022

Volltextzugriff (PDF)

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.3003-3013

2023

Volltextzugriff (PDF)

The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip

Indian journal of orthopaedics, 2021-02, Vol.55 (1), p.169-175

2021

Volltextzugriff (PDF)

Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B

Journal of pediatric intensive care, 2020-06, Vol.9 (2), p.145-148

2020

Volltextzugriff (PDF)

Apolipoprotein E allelic variants and cerebral palsy

Turkish journal of pediatrics, 2018, Vol.60 (4), p.361-371

2018

Volltextzugriff (PDF)

A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way?

Revista internacional de andrologia, 2021-01, Vol.19 (1), p.41-48

2021

Volltextzugriff (PDF)

1 – 25 von 59

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(49)
Mit Volltextzugriff
(53)

Publikationsform

Sprache

Englisch
(58)
Türkisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T)

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination

A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome

Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation

Comparison of two groups for the apolipoprotein E polymorphisms by using next generation sequencing: The first group with three consecutive abortions and the second group with at most one abortion in three consecutive pregnancies

A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay

A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss

A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”

An epilepsy‐associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip

Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B

Apolipoprotein E allelic variants and cerebral palsy

A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way?

Suchergebnisse filtern