Search Results

Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model‐a pilot study.

• Authors : Michaelson‐Cohen, Rachel; Salzer, Liat Sheelo; Brabbing‐Goldstein, Dana

• Source: Prenatal Diagnosis; Apr2024, Vol. 44 Issue 4, p511-518, 8p

Record details

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3in Ashkenazi Jews

• Authors : Birnbaum, Rivka; Ezer, Shlomit; Lotan, Nava Shaul

• Source: Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 3 p289-293, 5p

Record details

Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.

• Authors : Salah, Somaya; Jaber, Hiba; Frumkin, Ayala

• Source: American Journal of Medical Genetics. Part A; Oct2023, Vol. 191 Issue 10, p2623-2630, 8p

Record details

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

• Authors : Abu-Libdeh, Bassam; Jhujh, Satpal S.; Dhar, Srijita

• Source: Journal of Clinical Investigation. March 1, 2022, Vol. 132 Issue 5

Record details

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

• Authors : Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish

• Source: Journal of Medical Genetics; Aug2023, Vol. 60 Issue 8, p791-796, 6p

Record details

New onset or relapsing neuromyelitis optica temporally associated with SARS-CoV-2 infection and COVID-19 vaccination: a systematic review.

• Authors : Harel, Tamar; Gorman, Emily F.; Wallin, Mitchell T.

Subjects: NEUROMYELITIS optica; COVID-19; COVID-19 vaccines

• Source: Frontiers in Neurology; 2023, p1-25, 25p

Record details

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay.

• Authors : Mo, Alisa; Paz‐Ebstein, Emuna; Yanovsky‐Dagan, Shira

Subjects: DEVELOPMENTAL delay; MICROCEPHALY; GENETIC variation

• Source: Clinical Genetics; Jul2023, Vol. 104 Issue 1, p73-80, 8p

Record details

Education Full Text (H.W. Wilson)

Record details

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

• Authors : Yap, Zheng Yie; Park, Yo Han; Wortmann, Saskia B.

• Source: Genome Medicine. April 12, 2021, Vol. 13 Issue 1

Record details

Perception of Suprasegmental Speech Features via Bimodal Stimulation: Cochlear Implant on One Ear and Hearing Aid on the Other

• Authors : Most, Tova; Harel, Tamar; Shpak, Talma

Subjects: Auditory Perception; Suprasegmentals; Speech

• Source: Journal of Speech, Language, and Hearing Research. Apr 2011 54(2):668-678.11

Record details