Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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22q11.2 deletion syndrome in diverse populationsPaul Kruszka Yonit A Addissie; Daniel E McGinn; Antonio R Porras; Elijah Biggs; Matthew Share; T. Blaine Crowley; Brian H. Y Chung; Gary T. K Mok; Christopher C. Y Mak; Premala Muthukumarasamy; Meow-Keong Thong; Nirmala D Sirisena; Vajira H. W Dissanayake; C. Sampath Paththinige; L. B. Lahiru Prabodha; Rupesh Mishra; Vorasuk Shotelersuk; Ekanem Nsikak Ekure; Ogochukwu Jidechukwu Sokunbi; Nnenna Kalu; Carlos R Ferreira; Jordann-Mishael Duncan; Siddaramappa Jagdish Patil; Kelly L Jones; Julie D Kaplan; Omar A Abdul-Rahman; Annette Uwineza; Leon Mutesa; Angélica Moresco; María Gabriela Obregon; Antonio Richieri-Costa; Vera Lúcia Gil-da-Silva-Lopes; Adebowale A Adeyemo; Marshall Summar; Elaine H Zackai; Donna M McDonald-McGinn; Marius George Linguraru; Maximilian MuenkeAmerican Journal of Medical Genetics. Part A Hoboken v. 173, n. 4, p. 879-888, Feb. 2017Hoboken 2017Item não circula. Consulte sua biblioteca.(Acessar) |
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2 |
Material Type: Artigo
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Turner syndrome in diverse populationsPaul Kruszka Yonit A Addissie; Cedrik Tekendo-Ngongang; Kelly L Jones; Sarah K Savage; Neerja Gupta; Nirmala D Sirisena; Vajira H. W Dissanayake; C. Sampath Paththinige; Teresa Aravena; Sheela Nampoothiri; Dhanya Yesodharan; Katta M Girisha; Siddaramappa Jagdish Patil; Saumya Shekhar Jamuar; Jasmine Chew-Yin Goh; Agustini Utari; Nydia Sihombing; Rupesh Mishra; Neer Shoba Chitrakar; Brenda C Iriele; Ezana Lulseged; Andre Megarbane; Annette Uwineza; Elizabeth Eberechi Oyenusi; Oluwarotimi Bolaji Olopade; Olufemi Adetola Fasanmade; Milagros M Duenas-Roque; Meow-Keong Thong; Joanna Y. L Tung; Gary T. K Mok; Nicole Fleischer; Godfrey M Rwegerera; María Beatriz Herreros; Johnathan Watts; Karen Fieggen; Victoria Huckstadt; Angélica Moresco; María Gabriela Obregon; Dalia Farouk Hussen; Neveen A Ashaat; Engy A Ashaat; Brian H. Y Chung; Eben Badoe; Sultana M. H Faradz; Mona O El Ruby; Vorasuk Shotelersuk; Ambroise Wonkam; Ekanem Nsikak Ekure; Shubha R Phadke; Antonio Richieri-Costa; Maximilian MuenkeAmerican Journal of Medical Genetics. Part A Hoboken v. 182A, n.2, p. 303-313, Feb. 2020Hoboken 2020Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Down Syndrome in diverse populationsPaul Kruszka Antonio R Porras; Andrew K Sobering; Felicia A Ikolo; Samantha La Qua; Vorasuk Shotelersuk; Brian H. Y Chung; Gary T. K Mok; Annette Uwineza; Leon Mutesa; Angélica Moresco; María Gabriela Obregon; Ogochukwu Jidechukwu Sokunbi; Nnenna Kalu; Daniel Akinsanya Joseph; Desmond Ikebudu; Christopher Emeka Ugwu; Christy A. N Okoromah; Yonit A Addissie; Katherine L Pardo; J. Joseph Brough; Ni-Chung Lee; Katta M Girisha; Siddaramappa Jagdish Patil; Ivy S. L Ng; Breana Cham Wen Min; Saumya S Jamuar; Shailja Tibrewal; Batriti Wallang; Suma Ganesh; Nirmala D Sirisena; Vajira H. W Dissanayake; C. Sampath Paththinige; L. B. Lahiru Prabodha; Antonio Richieri-Costa; Premala Muthukumarasamy; Meow-Keong Thong; Kelly L Jones; Omar A Abdul-Rahman; Ekanem Nsikak Ekure; Adebowale A Adeyemo; Marshall Summar; Marius George Linguraru; Maximilian MuenkeAmerican Journal of Medical Genetics. Part A Hoboken v. 173, n. 1, p. 42-53, Jan./2017Hoboken 2017Item não circula. Consulte sua biblioteca.(Acessar) |
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4 |
Material Type: Artigo
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Noonan syndrome in diverse populationsPaul 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 MuenkeAmerican Journal of Medical Genetics. Part A Hoboken v. 173, n. 9, p. 2323-2334, Sept. 2017Hoboken 2017Item não circula. Consulte sua biblioteca.(Acessar) |
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5 |
Material Type: Artigo
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A novel PITX2 mutation in non‐syndromic orodental anomaliesIntarak, N ; Theerapanon, T ; Ittiwut, C ; Suphapeetiporn, K ; Porntaveetus, T ; Shotelersuk, VOral diseases, 2018-05, Vol.24 (4), p.611-618 [Periódico revisado por pares]Denmark: Wiley Subscription Services, IncTexto completo disponível |
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6 |
Material Type: Artigo
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NGS for rare diseasesShotelersuk, V.Clinica chimica acta, 2022-05, Vol.530, p.S459-S459 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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7 |
Material Type: Artigo
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A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasiaManaspon, C. ; Thaweesapphithak, S. ; Osathanon, T. ; Suphapeetiporn, K. ; Porntaveetus, T. ; Shotelersuk, V.British journal of dermatology (1951), 2019-08, Vol.181 (2), p.419-420 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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8 |
Material Type: Artigo
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A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamelPorntaveetus, T ; Srichomthong, C ; Ohazama, A ; Suphapeetiporn, K ; Shotelersuk, VOral diseases, 2017-09, Vol.23 (6), p.795-800 [Periódico revisado por pares]DenmarkTexto completo disponível |
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9 |
Material Type: Artigo
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Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasiaIntarak, N. ; Theerapanon, T. ; Srijunbarl, A. ; Suphapeetiporn, K. ; Porntaveetus, T. ; Shotelersuk, V.British journal of dermatology (1951), 2018-09, Vol.179 (3), p.758-760 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophyUrkasemsin, G. ; Pongpanich, M. ; Sariya, L. ; Kongcharoen, A. ; Buddhirongawatr, R. ; Rungarunlert, S. ; Ferreira, J. N. ; Chetruengchai, W. ; Phokaew, C. ; Srichomthong, C. ; Shotelersuk, V.Animal genetics, 2021-10, Vol.52 (5), p.714-719 [Periódico revisado por pares]Oxford: Wiley Subscription Services, IncTexto completo disponível |