Depiction of Hāloa by Solomon Enos
Dowsett, Leah Ke'ala'aumoe, Enos, Solomon Robert Nui
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2021)
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Journal Article
Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations
Bernhardt, Isaac, Glamuzina, Emma, Dowsett, Leah K., Webster, Dianne, Knoll, Detlef, Carpenter, Kevin, Bennett, Michael J., Maeda, Michelle, Wilson, Callum
Published in JIMD reports (01.07.2022)
Published in JIMD reports (01.07.2022)
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Journal Article
Abstract TP248: Genetic Predisposition to Diabetes and Risk of Stroke in Native Hawaiians
Brown, Stacy C, Both, Cameron, Dowsett, Leah, Fox, Keolu, Nakagawa, Kazuma, Gerschenson, Mariana, Falcone, Guido J
Published in Stroke (1970) (01.02.2024)
Published in Stroke (1970) (01.02.2024)
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Journal Article
Advancing stroke genetics in Hawai‘i and the Pacific Islands
Brown, Stacy C., Galang, Christine Anne T., Kana'iaupuni, Mālialani, Dowsett, Leah, Fox, Keolu, Nakagawa, Kazuma
Published in Frontiers in stroke (17.08.2023)
Published in Frontiers in stroke (17.08.2023)
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Journal Article
Delayed diagnosis and racial bias in children with genetic conditions
Omorodion, Jacklyn, Dowsett, Leah, Clark, Robin D., Fraser, Jamie, Abu‐El‐Haija, Aya, Strong, Alanna, Wojcik, Monica H., Bryant, Allison S., Gold, Nina B.
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Journal Article
Cornelia de Lange syndrome in diverse populations
Dowsett, Leah, Porras, Antonio R., Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M., Shukla, Anju, Nayak, Shalini S., Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Ferreira, Carlos R., Kisling, Monisha S., Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E., Prijoles, Eloise J., Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D., Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D.
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome
Grand, Katheryn, Skraban, Cara M., Cohen, Jennifer L., Dowsett, Leah, Mazzola, Sarah, Tarpinian, Jennifer, Bedoukian, Emma, Nesbitt, Addie, Denenberg, Beth, Lulis, Lauren, Santani, Avni, Zackai, Elaine H., Deardorff, Matthew A.
Published in American journal of medical genetics. Part A (01.09.2021)
Published in American journal of medical genetics. Part A (01.09.2021)
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Journal Article
Rubinstein–Taybi syndrome in diverse populations
Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul‐Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz‐Kuan, Alicia, Thong, Meow‐Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti‐Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Dowsett, Leah, Lulis, Lauren, Ficicioglu, Can, Cuddapah, Sanmati
Published in International journal of neonatal screening (01.06.2017)
Published in International journal of neonatal screening (01.06.2017)
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Journal Article
Genotype–phenotype correlation at codon 1740 of SETD2
Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadijé, Jacquemont, Sebastien, Bélanger, Stacey A., Löhner, Katharina, Veenstra‐Knol, Hermine E., Lemmink, Henny H., Keller‐Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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Journal Article
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
Carter, Lauren B., Battaglia, Agatino, Cherry, Athena, Manning, Melanie A., Ruzhnikov, Maura RZ, Bird, Lynne M., Dowsett, Leah, Graham, John M., Alkuraya, Fowzan S., Hashem, Mais, Dinulos, Mary Beth, Vallee, Stephanie, Adam, Margaret P., Glass, Ian, Beck, Anita E., Stevens, Cathy A., Zackai, Elaine, McDougall, Carey, Keena, Beth, Peron, Angela, Vignoli, Aglaia, Seaver, Laurie H., Slavin, Thomas P., Hudgins, Louanne
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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Journal Article
Cover Image, Volume 176A, Number 5, May 2018
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 (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article