Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome
DUKER, Angela L, BALLIF, Blake C, ROSENFELD, Jill A, LAMB, Allen N, SAHOO, Trilochan, BAWLE, Erawati V, PERSON, Richard E, MAHADEVAN, Sangeetha, ALLIMAN, Sarah, THOMPSON, Regina, TRAYLOR, Ryan, BEJJANI, Bassem A, SHAFFER, Lisa G
Published in European journal of human genetics : EJHG (01.11.2010)
Published in European journal of human genetics : EJHG (01.11.2010)
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Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
El-Hattab, Ayman W., Li, Fang-Yuan, Shen, Joseph, Powell, Berkley R., Bawle, Erawati V., Adams, Darius J., Wahl, Erica, Kobori, Joyce A., Graham, Brett, Scaglia, Fernando, Wong, Lee-Jun
Published in Genetics in medicine (01.01.2010)
Published in Genetics in medicine (01.01.2010)
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Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report
Neil, Erin, Cortez, Josef, Joshi, Aparna, Bawle, Erawati V, Poulik, Janet, Zilberman, Mark, El-Baba, Mohammad F, Sood, Beena G
Published in Italian journal of pediatrics (18.05.2010)
Published in Italian journal of pediatrics (18.05.2010)
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Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency
Li, Fang-Yuan, El-Hattab, Ayman W, Bawle, Erawati V, Boles, Richard G, Schmitt, Eric S, Scaglia, Fernando, Wong, Lee-Jun
Published in Human mutation (01.08.2010)
Published in Human mutation (01.08.2010)
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Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype
Carmany, Erin P., Bawle, Erawati V.
Published in American journal of medical genetics. Part A (01.04.2011)
Published in American journal of medical genetics. Part A (01.04.2011)
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Duplication of the STS region in males is a benign copy‐number variant
Furrow, Aubry, Theisen, Aaron, Velsher, Lea, Bawle, Erawati V., Sastry, Sujatha, Mendelsohn, Nancy J., Jarvis, Kristi, Shaffer, Lisa G., Chitayat, David
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Memory and Learning in Children with 22q11.2 Deletion Syndrome: Evidence for Ventral and Dorsal Stream Disruption?
Lajiness-O'Neill1, Renée R., Beaulieu, Isabelle, Titus, Jeffrey B., Asamoah, Alexander, Bigler, Erin D., Bawle, Erawati V., Pollack, Rebecca
Published in Child neuropsychology (01.02.2005)
Published in Child neuropsychology (01.02.2005)
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Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome
Bakhshi, Sameer, Cerosaletti, Karen M, Concannon, Patrick, Bawle, Erawati V, Fontanesi, James, Gatti, Richard A, Bhambhani, Kanta
Published in Journal of pediatric hematology/oncology (01.03.2003)
Published in Journal of pediatric hematology/oncology (01.03.2003)
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Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype
Bedoyan, Jirair K., Flore, Leigh Anne, Alkatib, Aziz, Ebrahim, Salah A., Bawle, Erawati V.
Published in American journal of medical genetics. Part A (01.09.2004)
Published in American journal of medical genetics. Part A (01.09.2004)
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Journal Article
Index of suspicion
Tarchichi, Tony, Wong, Kristen, Fisher, Marisa M, Palomo, Pablo, Zapata, Fernando, Bawle, Erawati V
Published in Pediatrics in review (01.06.2013)
Published in Pediatrics in review (01.06.2013)
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