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Author/Creator Chen, Yunjia

1. AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides. Issue 6 (11th March 2020)

Authors:
Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine
Journal:
Human mutation
Issue:
Volume 41:Issue 6(2020)
Page Start:
1145
Record Type:
Journal Article
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2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015)

Authors:
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1052
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience. Issue 1 (15th November 2021)

Authors:
Piotrowski, Arkadiusz; Koczkowska, Magdalena; Poplawski, Andrzej B.; Bartoszewski, Rafał; Króliczewski, Jarosław; Mieczkowska, Alina; Gomes, Alicia; Crowley, Michael R.; Crossman, David K.; Chen, Yunjia; Lao, Ping; Serra, Eduard; Llach, Meritxell C.; Castellanos, Elisabeth; Messiaen, Ludwine M.
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
74
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗