Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid featuresVimesh Parmar, Arunkumarendu Singh, Rinkal Madhudiya
2 October 2024
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencingAmy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis
1 October 2024
Novel ABCC8 mutation in the genetic diagnosis of familial hyperinsulinaemic hypoglycaemiaDeepthi Kattamanchi, Pradeep Gejjegenahalli Channabasappa Maralusiddappa, Krithika Manne Veerabhadraiah, Sharanabasavesh Mangalgi
12 September 2024
Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblingsRashmi Mishra, Naresh Kumar, Arun Bargali, Grisha Maich
29 July 2024
Clinicoradiological findings in a case of cleidocranial dysplasiaDisha Shahri, M Suresh Babu, Adarsh Lakkur Siddappa, B S Swathi
29 July 2024
Williams–Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletionAdekunle A Olowu
22 July 2024
Progressive spasticity and developmental delay in an infant with a CTNNB1 mutationMeagan Freeman, Nina Fakhori, Danielle Monteil
13 June 2024
Detection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysisHannah Leigh Helber, Taylor Olmsted Kim, HyoJeong Han
11 June 2024
Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphoniaKayla Dahlquist, Taylor Meyers, John Paul Schacht, Rebecca Hicks
6 May 2024
Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype–phenotype correlationsAriane Paoloni-Giacobino, Jean-Louis Blouin, Thierry Nouspikel, Omar Zgheib
2 May 2024
