Maternally inherited duplication of the possible imprinted 14q31 region

Oral Health in Rheumatoid Arthritis: Listening to Patients.

JDR clinical and translational research·2021

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Clinical genetics·2016

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

Leukemia·2016

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

JIMD reports·2015

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Prenatal diagnosis·2014

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

Prenatal diagnosis·2014

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Diagnostic performance of combined ultrasound parameters, B-hCG, and estradiol in early caesarean scar pregnancy and their association with intraoperative bleeding during curettage.

African journal of reproductive health·2026

How to improve uptake and adherence to dietary trials in gestational diabetes amongst South Asian women: insights from patient and public involvement and engagement.

NIHR open research·2026

Posterior reversible encephalopathy syndrome following eclampsia in a primigravida at 35 weeks of gestation: A case report.

Radiology case reports·2026

[Sex-specific lithium management and perinatal specificities].

Revue medicale suisse·2026

Menopausal status at the age of 46: Its association with depressive and anxiety symptoms and morbidity in women-A northern Finland birth cohort 1966 study.

Acta obstetricia et gynecologica Scandinavica·2026

Profiling zuranolone as a treatment option for postpartum depression.

Expert review of neurotherapeutics·2026

Related Experiment Videos

Maternally inherited duplication of the possible imprinted 14q31 region

Related Concept Videos

Oral Health in Rheumatoid Arthritis: Listening to Patients.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Diagnostic performance of combined ultrasound parameters, B-hCG, and estradiol in early caesarean scar pregnancy and their association with intraoperative bleeding during curettage.

How to improve uptake and adherence to dietary trials in gestational diabetes amongst South Asian women: insights from patient and public involvement and engagement.

Posterior reversible encephalopathy syndrome following eclampsia in a primigravida at 35 weeks of gestation: A case report.

[Sex-specific lithium management and perinatal specificities].

Menopausal status at the age of 46: Its association with depressive and anxiety symptoms and morbidity in women-A northern Finland birth cohort 1966 study.

Profiling zuranolone as a treatment option for postpartum depression.

Related Experiment Videos

Maternally inherited duplication of the possible imprinted 14q31 region

Related Concept Videos

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