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Item hits:
Issue Date
Title
Author(s)
16-Sep-2017
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
Pongsathorn Chaiyasap
;
Chupong Ittiwut
;
Chalurmpon Srichomthong
;
Apiruk Sangsin
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
4-Mar-2017
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
Apiruk Sangsin
;
Chulaluck Kuptanon
;
Chalurmpon Srichomthong
;
Monnat Pongpanich
;
Kanya Suphapeetiporn
;
Vorasuk Shotelersuk
1-Sep-2017
Noonan syndrome in diverse populations
Paul Kruszka
;
Antonio R. Porras
;
Yonit A. Addissie
;
Angélica Moresco
;
Sofia Medrano
;
Gary T.K. Mok
;
Gordon K.C. Leung
;
Cedrik Tekendo-Ngongang
;
Annette Uwineza
;
Meow Keong Thong
;
Premala Muthukumarasamy
;
Engela Honey
;
Ekanem N. Ekure
;
Ogochukwu J. Sokunbi
;
Nnenna Kalu
;
Kelly L. Jones
;
Julie D. Kaplan
;
Omar A. Abdul-Rahman
;
Lisa M. Vincent
;
Amber Love
;
Khadija Belhassan
;
Karim Ouldim
;
Ihssane El Bouchikhi
;
Anju Shukla
;
Katta M. Girisha
;
Siddaramappa J. Patil
;
Nirmala D. Sirisena
;
Vajira H.W. Dissanayake
;
C. Sampath Paththinige
;
Rupesh Mishra
;
Eva Klein-Zighelboim
;
Bertha E. Gallardo Jugo
;
Miguel Chávez Pastor
;
Hugo H. Abarca-Barriga
;
Steven A. Skinner
;
Eloise J. Prijoles
;
Eben Badoe
;
Ashleigh D. Gill
;
Vorasuk Shotelersuk
;
Patroula Smpokou
;
Monisha S. Kisling
;
Carlos R. Ferreira
;
Leon Mutesa
;
Andre Megarbane
;
Antonie D. Kline
;
Amy Kimball
;
Emmy Okello
;
Peter Lwabi
;
Twalib Aliku
;
Emmanuel Tenywa
;
Nonglak Boonchooduang
;
Pranoot Tanpaiboon
;
Antonio Richieri-Costa
;
Ambroise Wonkam
;
Brian H.Y. Chung
;
Roger E. Stevenson
;
Marshall Summar
;
Kausik Mandal
;
Shubha R. Phadke
;
María G. Obregon
;
Marius G. Linguraru
;
Maximilian Muenke
Discover
Author
2
Apiruk Sangsin
2
Chalurmpon Srichomthong
2
Kanya Suphapeetiporn
1
Amber Love
1
Ambroise Wonkam
1
Amy Kimball
1
Andre Megarbane
1
Angélica Moresco
1
Anju Shukla
1
Annette Uwineza
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Date issued
3
2017