UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 160

Sortiert nach

Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?

Asian journal of andrology, 2020-05, Vol.22 (3), p.236-245

2020

Link zum Volltext

Verfügbarkeit prüfen

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

Genetics in medicine, 2019-05, Vol.21 (5), p.1209-1217

2019

Link zum Volltext

Verfügbarkeit prüfen

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

Human genetics, 2020-02, Vol.139 (2), p.257-271

2020

Link zum Volltext

Verfügbarkeit prüfen

Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype

Clinical genetics, 2023-04, Vol.103 (4), p.495-497

2023

Link zum Volltext

Verfügbarkeit prüfen

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

Scientific reports, 2019-11, Vol.9 (1), p.15864-10, Article 15864

2019

Link zum Volltext

Verfügbarkeit prüfen

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

Clinical genetics, 2020-05, Vol.97 (5), p.741-746

2020

Link zum Volltext

Verfügbarkeit prüfen

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans

Clinical genetics, 2019-03, Vol.95 (3), p.442-443

2019

Link zum Volltext

Verfügbarkeit prüfen

Non-invasive preimplantation genetic testing for conventional IVF blastocysts

Journal of translational medicine, 2022-09, Vol.20 (1), p.1-396, Article 396

2022

Link zum Volltext

Verfügbarkeit prüfen

A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

Asian journal of andrology, 2023-09, Vol.25 (5), p.643-645

2023

Link zum Volltext

Verfügbarkeit prüfen

RNF216 regulates meiosis and PKA stability in the testes

The FASEB journal, 2021-04, Vol.35 (4), p.e21460-n/a

2021

Link zum Volltext

Verfügbarkeit prüfen

Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans

Asian journal of andrology, 2022-07, Vol.24 (4), p.359-366

2022

Link zum Volltext

Verfügbarkeit prüfen

Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

Human genetics, 2021-05, Vol.140 (5), p.761-773

2021

Link zum Volltext

Verfügbarkeit prüfen

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer

Journal of Cancer, 2019, Vol.10 (3), p.643-653

2019

Link zum Volltext

Verfügbarkeit prüfen

Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility

Human mutation, 2021-01, Vol.42 (1), p.31-36

2021

Link zum Volltext

Verfügbarkeit prüfen

TGFβ1-Smad Signaling Pathway Participates in Interleukin-33 Induced Epithelial-to-Mesenchymal Transition of A549 Cells

Cellular physiology and biochemistry, 2018-10, Vol.50 (2), p.757-767

2018

Link zum Volltext

Verfügbarkeit prüfen

Inner cell mass incarceration in 8-shaped blastocysts does not increase monozygotic twinning in preimplantation genetic diagnosis and screening patients

PloS one, 2018-01, Vol.13 (1), p.e0190776-e0190776

2018

Link zum Volltext

Verfügbarkeit prüfen

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Asian journal of andrology, 2023-01, Vol.25 (1), p.58-65

2023

Link zum Volltext

Verfügbarkeit prüfen

Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

Molecular cytogenetics, 2020-05, Vol.13 (1), p.15-6, Article 15

2020

Link zum Volltext

Verfügbarkeit prüfen

Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

Journal of assisted reproduction and genetics, 2020-04, Vol.37 (4), p.811-820

2020

Link zum Volltext

Verfügbarkeit prüfen

Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1165-n/a

2020

Link zum Volltext

Verfügbarkeit prüfen

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Journal of human genetics, 2019-03, Vol.64 (3), p.207-214

2019

Link zum Volltext

Verfügbarkeit prüfen

Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes

Journal of assisted reproduction and genetics, 2019-12, Vol.36 (12), p.2533-2539

2019

Link zum Volltext

Verfügbarkeit prüfen

Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia

Frontiers in genetics, 2022-08, Vol.13, p.936264-936264

2022

Link zum Volltext

Verfügbarkeit prüfen

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction

Journal of assisted reproduction and genetics, 2021-01, Vol.38 (1), p.243-250

2021

Link zum Volltext

Verfügbarkeit prüfen

X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations

Prenatal diagnosis, 2019-07, Vol.39 (8), p.603-608

2019

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 160

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(133)
Mit Volltextzugriff
(141)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(7)

Menü

Weitere Dienste

Einstellungen

Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans

Non-invasive preimplantation genetic testing for conventional IVF blastocysts

A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

RNF216 regulates meiosis and PKA stability in the testes

Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans

Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer

Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility

TGFβ1-Smad Signaling Pathway Participates in Interleukin-33 Induced Epithelial-to-Mesenchymal Transition of A549 Cells

Inner cell mass incarceration in 8-shaped blastocysts does not increase monozygotic twinning in preimplantation genetic diagnosis and screening patients

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes

Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction

X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations

Suchergebnisse filtern