Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review von Paththinige, C S, Sirisena, N D, Dissanayake, Vhw

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Population Screening for Hemoglobinopathies von Goonasekera, H.W, Paththinige, C.S, Dissanayake, V.H.W

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Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report von Paththinige, C S, Rajapakse, J R D K, Constantine, G R, Sem, K P, Singaraja, R R, Jayasekara, R W, Dissanayake, V H W

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Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature von Mishra, R, Paththinige, C S, Sirisena, N D, Nanayakkara, S, Kariyawasam, U G I U, Dissanayake, V H W

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A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature... von Paththinige, C S, Sirisena, N D, Kariyawasam, U G I U, Ediriweera, R C, Kruszka, P, Muenke, M, Dissanayake, V H W

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Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature von Saman Kumara, L. P. C., Kariyawasam, U. G. I. U., Sirisena, Nirmala D., Paththinige, C. S., Dissanayake, Vajira H. W.

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The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans von Dissanayake, Vajira H. W., Kariyawasam, U. G. I. U., Sirisena, Nirmala D., Paththinige, C. S.

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Additional file 2: Table S2. of Genetic determinants of inherited susceptibility to hypercholesterolemia â a comprehensive literature review von CS Paththinige, ND Sirisena, VHW Dissanayake

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Additional file 1: Table S1. of Genetic determinants of inherited susceptibility to hypercholesterolemia â a comprehensive literature review von CS Paththinige, ND Sirisena, VHW Dissanayake

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Noonan syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., Muenke, Maximilian

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Turner syndrome in diverse populations von Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda C., Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Oyenusi, Elizabeth Eberechi, Olopade, Oluwarotimi Bolaji, Fasanmade, Olufemi Adetola, Duenas‐Roque, Milagros M., Thong, Meow‐Keong, Tung, Joanna Y. L., Mok, Gary T. K., Fleischer, Nicole, Rwegerera, Godfrey M., Herreros, María Beatriz, Watts, Johnathan, Fieggen, Karen, Huckstadt, Victoria, Moresco, Angélica, Obregon, María Gabriela, Hussen, Dalia Farouk, Ashaat, Neveen A., Ashaat, Engy A., Chung, Brian H. Y., Badoe, Eben, Faradz, Sultana M. H., El Ruby, Mona O., Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Phadke, Shubha R., Richieri‐Costa, Antonio, Muenke, Maximilian

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A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report von Sirisena, Nirmala Dushyanthi, Samaranayake, U M Jayami Eshana, Neto, Osorio Lopes Abath, Foley, A Reghan, Pathirana, B A P Sajeewani, Neththikumara, Nilaksha, Paththinige, C Sampath, Rathnayake, Pyara, Donkervoort, Sandra, Bönnemann, Carsten G, Dissanayake, Vajira H W

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Williams–Beuren syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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22q11.2 deletion syndrome in diverse populations von Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H. Y., Mok, Gary T. K., Mak, Christopher C. Y., Muthukumarasamy, Premala, Thong, Meow‐Keong, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann‐Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri‐Costa, Antonio, Gil‐da‐Silva‐Lopes, Vera L., Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald‐McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian

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Pregnancy outcomes and contraceptive use in patients with systemic lupus Erythematosus, rheumatoid arthritis and women without a chronic illness: a comparative study von Galappatthy, Priyadarshani, Jayasinghe, Jayan D. D., Paththinige, Sampath C., Sheriff, Rezvi M. H., Wijayaratne, Lalith S.

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Down syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, J. Joseph, Lee, Ni‐Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Richieri‐Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow‐Keong, Jones, Kelly L., Abdul‐Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, Muenke, Maximilian

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Cover Image, Volume 173A, Number 4, April 2017 von Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H. Y., Mok, Gary T. K., Mak, Christopher C. Y., Muthukumarasamy, Premala, Thong, Meow‐Keong, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann‐Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri‐Costa, Antonio, Gil‐da‐Silva‐Lopes, Vera L., Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald‐McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian

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Cover Image, Volume 176A, Number 5, May 2018 von Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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Cover Image, Volume 173A, Number 9, September 2017 von Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., Muenke, Maximilian

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Additional file 1: of A child with multiple congenital anomalies due to partial trisomy 7q22.1â â â qter resulting from a maternally inherited balanced translocation: a case report... von C. Paththinige, N. Sirisena, U. Kariyawasam, R. Ediriweera, P. Kruszka, M. Muenke, V. Dissanayake

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