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Showing results 1 to 15 of 15

	Title	Author(s)	Issue Date
	22q11.2 deletion syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Addissie, YA McGinn, DE Porras, AR Biggs, E Share, M Crowley, TB Chung, BHY Mok, TKG MAK, CCY Muthukumarasamy, P Thong, MK Siriseria, ND Dissanayake, VHW Paththinige, CS Prabodha, LBL Mishra, R Shotelersuk, V Ekure, EN Sokunbi, OJ Kalu, N Ferreira, CR Duncan, JM Patil, SJ Jones, KL Kaplan, JD Abdul-Rahman, OA Uwineza, A Mutesa, L Moresco, A Obregon, MG Richieri-Costa, A Gil-da-Silva-Lopes, VL Adeyemo, AA Summar, M Zackai, EH McDonald-McGinn, DM Linguraru, MG Muenke, M	2017
	Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly Journal:Human Genetics	Vargas, FR Roessler, E Gaudenz, K Belloni, E Whitehead, AS Kirke, PN Mills, JL Hooper, G Stevenson, RE Cordeiro, I Correia, P Felix, T Gereige, R Cunningham, ML Canún, S Antonarakis, SE Strachan, T Tsui, LC Scherer, SW Muenke, M	1998
	Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis Journal:American Journal of Human Genetics	Klopocki, E Lohan, S Brancati, F Koll, R Brehm, A Seemann, P Dathe, K Stricker, S Hecht, J Bosse, K Betz, RC Garaci, FG Dallapiccola, B Jain, M Muenke, M Ng, VCW Chan, W Chan, D Mundlos, S	2011
	Cover Image, Volume 176A, Number 5, May 2018 Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR de Souza, DH Moresco, A Huckstadt, V Gill, AD Boyle, AP Hu, T Addissie, YA Mok, TKG Tekendo-Ngongang, C Fieggen, K Prijoles, EJ Tanpaiboon, P Honey, E Luk, HM Lo, FMI Thong, MK Muthukumarasamy, P Jones, KL Belhassan, K Ouldim, K El Bouchikhi, I Bouguenouch, L Shukla, A Girisha, KM Sirisena, ND Dissanayake, VHW Paththinige, CS Mishra, R Kisling, MS Ferreira, CR de Herreros, MB Lee, NC Jamuar, SS Lai, A Tan, ES Lim, YJ Cham Breana, WM Gupta, N Lotz-Esquivel, S Badilla-Porras, R Hussen, DF El Ruby, MO Ashaat, EA Patil, SJ Dowsett, L Eaton, A Innes, AM Shotelersuk, V Badoe, E Wonkam, A Obregon, MG Chung, BHY Trubnykova, M La Serna, J Gallardo Jugo, BE Ghavez Pastor, M Abarca Barriga, HH Megarbane, A Kozel, BA van Haelst, MM Stevenson, RE Summar, M Adeyemo, AA Morris, CA Moretti-Ferreira, D Linguraru, MG Muenke, M	2018
	Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly Journal:Human Genetics	Roessler, E Ward, DE Gaudenz, K Belloni, E Scherer, SW Donnai, D SiegelBartelt, J Tsui, LC Muenke, M	1997
	Down syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR Sobering, AK Ikolo, FA Qua, SL Shotelersuk, V Chung, BHY Mok, TKG Uwineza, A Mutesa, L Moresco, A Obregon, MG Sokunbi, OJ Kalu, N Joseph, DA Ikebudu, D Ugwu, CE Okoromah, CAN Addissie, YA Pardo, KL Brough, JJ Lee, NC Girisha, KM Patil, SJ Ng, ISL Mim, BCW Jamuar, SS Tibrewal, S Wallang, B Ganesh, S Sirisena, ND Dissanayake, VHW Paththinige, CS Prabodha, LBL Richieri-Costa, A Muthukumarasamy, P Thong, MK Jones, KL Abdul-Rahman, OA Ekure, EN Adeyemo, AA Summar, M Linguraru, MG Muenke, M	2017
	Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Journal:Nature genetics	Belloni, E Muenke, M Roessler, E Traverso, G SiegelBartelt, J Frumkin, A Mitchell, HF DonisKeller, H Helms, C Hing, AV Heng, HH Koop, B Martindale, D Rommens, JM Tsui, LC Scherer, SW	1996
	Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? Journal:Molecular Genetics & Genomic Medicine	Kruszka, P Uwineza, A Mutesa, L Martinez, AF Abe, Y Zackai, EH Ganetzky, R Chung, BHY Stevenson, RE Adelstein, RS Ma, X Mullikin, JC Hong, SK Muenke, M	2015
	Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly Journal:Human Molecular Genetics	Roessler, E Belloni, E Gaudenz, K Vargas, F Scherer, SW Tsui, LC Muenke, M	1997
	Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Journal:Nature genetics	Roessler, E Belloni, E Gaudenz, K Jay, P Berta, P Scherer, SW Tsui, LC Muenke, M	1996
	Noonan syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR Addissie, YA Moresco, A Medrano, S Mok, TKG LEUNG, KC Tekendo-Ngongang, C Uwineza, A Thong, MK Muthukumarasamy, P Honey, E Ekure, EN Sokunbi, OJ Kalu, N Jones, KL Kaplan, JD Abdul-Rahman, OA Vincent, LM Love, A Belhassan, K Ouldim, K El Bouchikhi, I Shukla, A Girisha, KM Patil, SJ Sirsena, ND Dissanayake, VHW Paththinige, CS Mishra, R Klein-Zighelboim, E Gallardo Jugo, BE Chavez P, M Abarca-Barriga, HH Skinner, SA Prijoles, EJ Badoe, E Gill, AD Shotelersuk, V Smpokou, P Kisling, MS Ferreira, CR Mutesa, L Megabane, A Kline, AD Kimball, A Okello, E Lwabi, P Aliku, T Tenywa, E Boonchooduang, N Tanpaiboon, P Richieri-Costa, A Wonkam, A Chung, BHY Stevenson, RE Summar, M Mandal, K Phadke, SR Obregon, MG Linguraru, MG Muenke, M	2017
	Physical mapping of the holoprosencephaly critical region on chromosome 7q36 Journal:Nature Genetics	Gurrieri, F Trask, BJ Van Den Engh, G Krauss, CM Schinzel, A Pettenati, MJ Schindler, D DietzBand, J Vergnaud, G Scherer, SW Tsui, LC Muenke, M	1993
	Rubinstein–Taybi syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Tekendo-Ngongang, C Owosela, B Fleischer, N Addissie, YA Malonga, B Badoe, E Gupta, N Moresco, A Huckstadt, V Ashaat, EA Hussen, DF Luk, HM Lo, IFM Chung, BHY Fung, JLF Moretti-Ferreira, D Batista, LC Lotz-Esquivel, S Saborio-Rocafort, M Badilla-Porras, R Penon Portmann, M Jones, KL Abdul-Rahman, OA Uwineza, A Prijoles, EJ Ifeorah, IK Paneque, AL Sirisena, ND Dowsett, L Lee, S Cappuccio, G Kitchin, CS Diaz-Kuan, A Thong, MK Obregon, MG Mutesa, L Dissanayake, VHW El Ruby, MO Brunetti-Pierri, N Ekure, EN Stevenson, RE Muenke, M Kruszka, P	2020
	Turner syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Addissie, YA Tekendo-Ngongang, C Jones, KL Savage, SK Gupta, N Sinsena, ND Dissanayake, VHW Paththirnige, CS Aravena, T Nampoothiri, S Yesodharan, D Girisha, KM Patil, SJ Jamuar, SS Goh, JCY Utari, A Sihombing, N Mishra, R Chitrakar, NS Inele, BC Lulseged, E Megarbane, A Uwineza, A Oyenusi, EE Olopade, OB Fasanmade, OA Duenas-Roque, MM Thong, MK Tung, JYL Mok, GTK Fleischer, N Rwegerera, GM de Herreros, MB Watts, J Fieggen, K Huckstadt, V Moresco, A Obregon, MG Hussen, DF Ashaat, NA Ashaat, EA Chung, BHY Badoe, E Faradz, SMH El Ruby, MO Shotelersuk, V Wonkam, A Ekure, EN Phadke, SR Richieri-Costa, A Muenke, M	2020
	Williams-Beuren syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR de Souza, DH Moresco, A Huckstadt, V Gill, AD Goyle, AP Hu, T Addissie, YA Mok, TKG Tekendo-Ngongang, C Fieggen, K Prijoles, EJ Tanpaiboon, P Honey, E Luk, HM Lo, FMI Thong, MK Muthukumarasamy, P Jones, KL Belhassan, K Ouldim, K El Bouchikhi, I Bouguenouch, L Shukla, A Girisha, KM Sirisena, ND Dissanayake, VHW Paththinige, CS Mirshra, R Kislling, MS Ferreira, CR de Herreros, MB Lee, NC Jamuar, SS Lai, A Tan, ES Lim, JY Cham Breaba, WM Gupta, N Lotz-Esquivel, S Badilla-Porras, R Hussen, DF El Ruby, MO Ashaat, EA Patil, SJ Dowsett, L Eaton, A Innes, AM Shotelersuk, V Badoe, E Wonkam, A Obregon, MG Chung, BHY Trubnykova, M La Serna, J Gallardo Jugo, BE Chavez Pastor, M Abarca Barriga, HH Megarbane, A Kozel, BA van Haelst, MM Stevenson, RE Summar, M Adeyemo, AA Morris, CA Moretti-Ferreira, D Linguraru, MG Muenke, M	2018

Showing results 1 to 15 of 15