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Noonan syndrome in diverse populations
by
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
Published in
American journal of medical genetics. Part A
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Turner syndrome in diverse populations
by
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
Published in
American journal of medical genetics. Part A
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A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
by
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
Published in
BMC neurology
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Williams–Beuren syndrome in diverse populations
by
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
Published in
American journal of medical genetics. Part A
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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
by
Galappatthy, Priyadarshani
,
Jayasinghe, Jayan D. D.
,
Paththinige, Sampath C.
,
Sheriff, Rezvi M. H.
,
Wijayaratne, Lalith S.
Published in
International journal of rheumatic diseases
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Cover Image, Volume 173A, Number 4, April 2017
by
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
Published in
American journal of medical genetics. Part A
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7
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22q11.2 deletion syndrome in diverse populations
by
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
Published in
American journal of medical genetics. Part A
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8
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Cover Image, Volume 176A, Number 5, May 2018
by
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
Published in
American journal of medical genetics. Part A
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Article
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9
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Cover Image, Volume 173A, Number 9, September 2017
by
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
Published in
American journal of medical genetics. Part A
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Article
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