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Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1449 - 1457
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2017, Volume 173, Issue 9, pp. 2323 - 2334
Journal Article
by Kruszka, Paul and Porras, Antonio R and de Souza, Deise Helena and Moresco, Angélica and Huckstadt, Victoria and Gill, Ashleigh D and Boyle, Alec P and Hu, Tommy and Addissie, Yonit A and Mok, Gary T. K and Tekendo‐Ngongang, Cedrik and Fieggen, Karen and Prijoles, Eloise J and Tanpaiboon, Pranoot and Honey, Engela and Luk, Ho‐Ming and Lo, Ivan F. M and Thong, Meow‐Keong and Muthukumarasamy, Premala and Jones, Kelly L and Belhassan, Khadija and Ouldim, Karim and El Bouchikhi, Ihssane and Bouguenouch, Laila and Shukla, Anju and Girisha, Katta M and Sirisena, Nirmala D and Dissanayake, Vajira H. W and Paththinige, C. Sampath and Mishra, Rupesh and Kisling, Monisha S and Ferreira, Carlos R and de Herreros, María Beatriz and Lee, Ni‐Chung and Jamuar, Saumya S and Lai, Angeline and Tan, Ee Shien and Ying Lim, Jiin and Wen‐Min, Cham Breana and Gupta, Neerja and Lotz‐Esquivel, Stephanie and Badilla‐Porras, Ramsés and Hussen, Dalia Farouk and El Ruby, Mona O and Ashaat, Engy A and Patil, Siddaramappa J and Dowsett, Leah and Eaton, Alison and Innes, A. Micheil and Shotelersuk, Vorasuk and Badoe, Ëben and Wonkam, Ambroise and Obregon, María Gabriela and Chung, Brian H. Y and Trubnykova, Milana and La Serna, Jorge and Gallardo Jugo, Bertha Elena and Chávez Pastor, Miguel and Abarca Barriga, Hugo Hernán and Megarbane, Andre and Kozel, Beth A and van Haelst, Mieke M and Stevenson, Roger E and Summar, Marshall and Adeyemo, A. Adebowale and Morris, Colleen A and Moretti‐Ferreira, Danilo and Linguraru, Marius George and Muenke, Maximilian
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1128 - 1136
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 879 - 888
Journal Article
Archivos argentinos de pediatría, ISSN 1668-3501, 04/2018, Volume 116, Issue 2, pp. e336 - e340
El síndrome de Pai se describe como la presencia de 3 anomalías congénitas: fisura de labio medial, pólipos cutáneos nasales y faciales, y lipoma pericallosal.... 
PEDIATRICS
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 04/2018, Volume 116, Issue 2, pp. E336 - E340
Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic... 
Pai syndrome | pericallosal lipoma | nasal polyps | PEDIATRICS | PATIENT | corpus callosum | vertebral anomalies | MEDIAN CLEFT | UPPER LIP
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 20, Issue 6, pp. 910 - 917
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 42 - 53
Journal Article
by Kruszka, Paul and Porras, Antonio R and de Souza, Deise Helena and Moresco, Angélica and Huckstadt, Victoria and Gill, Ashleigh D and Boyle, Alec P and Hu, Tommy and Addissie, Yonit A and Mok, Gary T. K and Tekendo-Ngongang, Cedrik and Fieggen, Karen and Prijoles, Eloise J and Tanpaiboon, Pranoot and Honey, Engela and Luk, Ho-Ming and Lo, Ivan F. M and Thong, Meow-Keong and Muthukumarasamy, Premala and Jones, Kelly L and Belhassan, Khadija and Ouldim, Karim and El Bouchikhi, Ihssane and Bouguenouch, Laila and Shukla, Anju and Girisha, Katta M and Sirisena, Nirmala D and Dissanayake, Vajira H. W and Paththinige, C. Sampath and Mishra, Rupesh and Kisling, Monisha S and Ferreira, Carlos R and de Herreros, María Beatriz and Lee, Ni-Chung and Jamuar, Saumya S and Lai, Angeline and Tan, Ee Shien and Ying Lim, Jiin and Wen-Min, Cham Breana and Gupta, Neerja and Lotz-Esquivel, Stephanie and Badilla-Porras, Ramsés and Hussen, Dalia Farouk and El Ruby, Mona O and Ashaat, Engy A and Patil, Siddaramappa J and Dowsett, Leah and Eaton, Alison and Innes, A. Micheil and Shotelersuk, Vorasuk and Badoe, Ëben and Wonkam, Ambroise and Obregon, María Gabriela and Chung, Brian H. Y and Trubnykova, Milana and La Serna, Jorge and Gallardo Jugo, Bertha Elena and Chávez Pastor, Miguel and Abarca Barriga, Hugo Hernán and Megarbane, Andre and Kozel, Beth A and van Haelst, Mieke M and Stevenson, Roger E and Summar, Marshall and Adeyemo, A. Adebowale and Morris, Colleen A and Moretti-Ferreira, Danilo and Linguraru, Marius George and Muenke, Maximilian
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5
Journal Article
Archivos argentinos de pediatría, ISSN 1668-3501, 06/2011, Volume 109, Issue 3, pp. 226 - 231
Introducción. El misoprostol se emplea popularmente en la Argentina para intentar la interrupción del embarazo, pero cierta proporción de los embarazos... 
PEDIATRICS
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2020, Volume 182, Issue 2, pp. 303 - 313
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we... 
diverse populations | health disparities | Turner syndrome | facial analysis technology | MORTALITY | WOMEN | GENETICS & HEREDITY | PHENOTYPE | PREVALENCE | GIRLS | Population | Phenotypes | Noonan's syndrome | Genetic disorders | Turner's syndrome | X Chromosomes
Journal Article
by Bladen, Catherine L and Bladen, Catherine L and Thompson, Rachel and Thompson, Rachel and Jackson, Jacqueline M and Jackson, Jacqueline M and Garland, Connie and Garland, Connie and Wegel, Claire and Wegel, Claire and Ambrosini, Anna and Ambrosini, Anna and Pisano, Paolo and Pisano, Paolo and Walter, Maggie C and Walter, Maggie C and Schreiber, Olivia and Schreiber, Olivia and Lusakowska, Anna and Lusakowska, Anna and Jedrzejowska, Maria and Jedrzejowska, Maria and Kostera-Pruszczyk, Anna and Kostera-Pruszczyk, Anna and van der Pol, Ludo and van der Pol, Ludo and Wadman, Renske I and Wadman, Renske I and Gredal, Ole and Gredal, Ole and Karaduman, Ayse and Karaduman, Ayse and Topaloglu, Haluk and Topaloglu, Haluk and Yilmaz, Oznur and Yilmaz, Oznur and Matyushenko, Vitaliy and Matyushenko, Vitaliy and Rasic, Vedrana Milic and Rasic, Vedrana Milic and Kosac, Ana and Kosac, Ana and Karcagi, Veronika and Karcagi, Veronika and Garami, Marta and Garami, Marta and Herczegfalvi, Agnes and Herczegfalvi, Agnes and Monges, Soledad and Monges, Soledad and Moresco, Angelica and Moresco, Angelica and Chertkoff, Lilien and Chertkoff, Lilien and Chamova, Teodora and Chamova, Teodora and Guergueltcheva, Velina and Guergueltcheva, Velina and Butoianu, Niculina and Butoianu, Niculina and Craiu, Dana and Craiu, Dana and Korngut, Lawrence and Korngut, Lawrence and Campbell, Craig and Campbell, Craig and Haberlova, Jana and Haberlova, Jana and Strenkova, Jana and Strenkova, Jana and Alejandro, Moises and Alejandro, Moises and Jimenez, Alatorre and Jimenez, Alatorre and Ortiz, Genaro Gabriel and Ortiz, Genaro Gabriel and Enriquez, Gracia Viviana Gonzalez and Enriquez, Gracia Viviana Gonzalez and Rodrigues, Miriam and Rodrigues, Miriam and Roxburgh, Richard and Roxburgh, Richard and Dawkins, Hugh and Dawkins, Hugh and Youngs, Leanne and Youngs, Leanne and Lahdetie, Jaana and Lahdetie, Jaana and Angelkova, Natalija and Angelkova, Natalija and Saugier-Veber, Pascal and Saugier-Veber, Pascal and Cuisset, Jean-Marie and Cuisset, Jean-Marie and Bloetzer, Clemens and Bloetzer, Clemens and Jeannet, Pierre-Yves and Jeannet, Pierre-Yves and Klein, Andrea and Klein, Andrea and ...
Journal of Neurology, ISSN 0340-5354, 1/2014, Volume 261, Issue 1, pp. 152 - 163
Journal Article