Results
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GWAS signals revisited using human knockouts. [electronic resource] by
- Maddirevula, Sateesh
- AlZahrani, Fatema
- Anazi, Shams
- Almureikhi, Mariam
- Ben-Omran, Tawfeg
- Abdel-Salam, Ghada M H
- Hashem, Mais
- Ibrahim, Niema
- Abdulwahab, Firdous M
- Meriki, Neama
- Bashiri, Fahad A
- Thong, Meow-Keong
- Muthukumarasamy, Premala
- Azwani Mazlan, Rifhan
- Shaheen, Ranad
- Alkuraya, Fowzan S
Producer: 20181002
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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4.
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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. [electronic resource] by
- Rokicki, Dariusz
- Pajdowska, Magdalena
- Trubicka, Joanna
- Thong, Meow-Keong
- Ciara, Elżbieta
- Piekutowska-Abramczuk, Dorota
- Pronicki, Maciej
- Sikora, Roman
- Haidar, Rijad
- Ołtarzewski, Mariusz
- Jabłońska, Ewa
- Muthukumarasamy, Premala
- Sthaneswar, Pavai
- Gan, Chin-Seng
- Krajewska-Walasek, Małgorzata
- Carrozzo, Rosalba
- Verrigni, Daniela
- Semeraro, Michela
- Rizzo, Cristiano
- Taurisano, Roberta
- Alhaddad, Bader
- Kovacs-Nagy, Reka
- Haack, Tobias B
- Dionisi-Vici, Carlo
- Pronicka, Ewa
- Wortmann, Saskia B
Producer: 20180315
In:
Clinica chimica acta; international journal of clinical chemistry vol. 471
Availability: No items available.
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5.
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22q11.2 deletion syndrome in diverse populations. [electronic resource] 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
Producer: 20171030
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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6.
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Down syndrome in diverse populations. [electronic resource] by
- 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
Producer: 20171019
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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7.
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Noonan syndrome in diverse populations. [electronic resource] 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
Producer: 20171130
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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8.
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Williams-Beuren syndrome in diverse populations. [electronic resource] 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
Producer: 20190520
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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