Developmental Delays And Congenital Anomalies - Gynecology

Relevant Publications

Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.

Issue Release: 2024

Landscape of Constitutional Variation in Human Disorders.

Issue Release: 2024

Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.

Issue Release: 2024

From diagnosis to postoperative challenges: a comprehensive case report on 2q37 deletion syndrome with CHD.

Issue Release: 2024

A Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.

Issue Release: 2024

MGA-Related Syndrome: A Proposed Novel Disorder.

Issue Release: 2024

Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.

Issue Release: 2024

Preeclampsia, Fetal Growth Restriction, and 24-Month Neurodevelopment in Very Preterm Infants.

Issue Release: 2024

Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.

Issue Release: 2024

Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review.

Issue Release: 2024

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Issue Release: 2024

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.

Issue Release: 2024

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Issue Release: 2023

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Issue Release: 2023

Nationwide Long-Term Growth and Developmental Outcomes of Infants for Congenital Anomalies in the Digestive System and Abdominal Wall Defects With Surgery in Korea.

Issue Release: 2023

Cri-Du-Chat Syndrome - A Rare Case Report.

Issue Release: 2023

Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype.

Issue Release: 2023

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.

Issue Release: 2023

Schizencephaly: A rare cause of late-onset epilepsy in an adult.

Issue Release: 2023

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Issue Release: 2023

What are the Challenges in Treating Parasitic Infections?

What Role Do Insurance Companies Play?

Why is Bilateral Ovariectomy Performed?

What Are the Benefits of Early Detection and Regular Screenings?

What is Journaling in Gynecology?

How Do Prenatal Visits Contribute?

What is Educational Debt?

What are the Success Rates of ZIFT?

How Do Language Barriers Affect Gynecological Care?

What are the treatment options for fertility complications?

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