Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 03/06/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 41 publications

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Journal: American journal of medical genetics. Part A
Published: November 27, 2024

ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

Journal: Clinical genetics
Published: October 18, 2023

Falling through the cracks: Failing to identify compromised Miranda abilities for defendants with limited cognitive capacities.

Falling through the cracks: Failing to identify compromised Miranda abilities for defendants with limited cognitive capacities.

Journal: Behavioral sciences & the law
Published: November 13, 2022

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review.

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review.

Journal: Frontiers in genetics
Published: July 08, 2022

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.

Journal: Clinical genetics
Published: July 02, 2022

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Journal: Journal of clinical medicine
Published: May 17, 2022

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.

Journal: Children (Basel, Switzerland)
Published: April 13, 2022

Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7

Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 25, 2022

Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.

Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.

Journal: Genes
Published: May 17, 2021

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.

Journal: Genes
Published: October 28, 2020

Biallelic variants in GLE1 with survival beyond neonatal period.

Biallelic variants in GLE1 with survival beyond neonatal period.

Journal: Clinical genetics
Published: May 26, 2020

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Journal: Frontiers in physiology
Published: April 29, 2020
Showing 1-12 of 41

Last Updated: 03/06/2025