Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group. Read more about Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region. Read more about Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Read more about PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Germline RRAS2 mutations are not associated with Noonan syndrome. Read more about Germline RRAS2 mutations are not associated with Noonan syndrome.
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. Read more about Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Read more about A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. Read more about TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing. Read more about Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing.
Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon. Read more about Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.
