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1
The molecular analyses were performed in a group of 50
unrelated
patients
.
2
Patients and results: We report four
unrelated
patients
with ACC and SDHx mutations.
3
We describe two
unrelated
patients
referred to two different institutions for investigation of thrombocytopenia.
4
Forty-two
unrelated
patients
mostly originating from Western China were recruited.
5
Definitive proof of pathogenicity will require confirmation in
unrelated
patients
.
6
Direct sequencing of EpCAM from 2 additional
unrelated
patients
revealed novel mutations in the gene.
7
This report describes two
unrelated
patients
with obesity, mental retardation, body asymmetry, and muscle weakness.
8
Case report: Two
unrelated
patients
presented with slowly progressive or nonprogressive proximal muscle weakness since childhood.
9
Participants and methods: Two
unrelated
patients
with confirmed SARS-CoV-2 infection and bilateral acute conjunctivitis were examined.
10
We report on two
unrelated
patients
with a proximal deletion of the long arm of chromosome 21.
11
We now report somatic SMAD3 mutations in bone lesions of four
unrelated
patients
with endosteal pattern melorheostosis.
12
Out of 273
unrelated
patients
,
only 3 subjects had defects in FAM161A.
13
Methods: Mutational analysis of KCNJ2 was performed for 541
unrelated
patients
.
14
We used DHPLC to scan mutations in these genes in a cohort of
unrelated
patients
with C282Y mutation.
15
Here we report the germline and somatic findings for two
unrelated
patients
with NF1 and high-grade serous OC.
16
The other 2
unrelated
patients
participated in studies for undiagnosed pediatric hyperkinetic movement disorders and underwent whole-exome sequencing.
unrelated
patients
unrelated
patient