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Deepika Burkardt
Deepika Burkardt
在 nih.gov 的电子邮件经过验证
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引用次数
引用次数
年份
Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician
DDC Burkardt, JM Graham Jr, SS Short, PK Frykman
Clinical pediatrics 53 (1), 71-81, 2014
802014
PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes
S Cyrus, D Burkardt, DD Weaver, WT Gibson
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019
632019
X-ray structure and temperature dependent luminescent properties of two bimetallic europium complexes
S Swavey, JA Krause, D Collins, D D’Cunha, A Fratini
Polyhedron 27 (3), 1061-1069, 2008
482008
Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25
DDC Burkardt, JA Rosenfeld, ML Helgeson, B Angle, V Banks, WE Smith, ...
American Journal of Medical Genetics Part A 155 (6), 1336-1351, 2011
462011
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the …
DDC Burkardt, A Zachariou, C Loveday, CL Allen, DJ Amor, A Ardissone, ...
American Journal of Medical Genetics Part A 179 (10), 2049-2055, 2019
242019
Dinuclear lanthanide (III) complexes containing β-diketonate terminal ligands bridged by 2, 2′-bipyrimidine
D D’Cunha, D Collins, G Richards, GS Vincent, S Swavey
Inorganic Chemistry Communications 9 (10), 979-981, 2006
242006
Approach to overgrowth syndromes in the genome era
DD Burkardt, K Tatton‐Brown, W Dobyns, JM Graham Jr
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019
192019
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes
F Pirozzi, B Lee, N Horsley, DD Burkardt, WB Dobyns, JM Graham Jr, ...
American Journal of Medical Genetics Part A, 2021
182021
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants
L Pronman, M Rondinelli, DDC Burkardt, S Velayuthan, AS Khalili, ...
Clinical pediatrics 58 (7), 819-824, 2019
162019
Hospital-based acute care after outpatient colonoscopy: implications for quality measurement in the ambulatory setting
JP Fox, DDC Burkardt, I Ranasinghe, CP Gross
Medical care, 801-808, 2014
132014
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
A Pennisi, A Rötig, CJ Roux, R Lévy, M Henneke, J Gärtner, PT Kisa, ...
Journal of Medical Genetics, 2020
82020
Abnormal body size and proportion
JM Graham Jr, DDC Burkardt, DL Rimoin
Emery and Rimoin's principles and practice of medical genetics, 1-25, 2013
72013
HIST1H1E Syndrome
D Burkardt, K Tatton-Brown
52020
Thinking outside “The Box”: Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr
PA Sanchez‐Lara, K Grand, MK Haanpää, CJ Curry, R Wang, F Ezgü, ...
American Journal of Medical Genetics Part A, 2021
42021
PTPN4 germline variants result in aberrant neurodevelopment and growth
JJ Chmielewska, D Burkardt, JL Granadillo, R Slaugh, S Morgan, ...
Human Genetics and Genomics Advances 2 (3), 100033, 2021
32021
Abnormal Body Size and Proportion
DDC Burkardt, JM Graham Jr
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics …, 2019
12019
A celebration in honor of John M. Graham, Jr, MD, ScD.
D D'Cunha Burkardt, PA Sanchez-Lara, KM Girisha, JA Golden, JC Carey
American Journal of Medical genetics. Part A, 2021
2021
Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor
DD Burkardt
American Journal of Medical Genetics Part A, 2021
2021
INVERSE PHENOTYPES OF FUNCTION AND MORPHOLOGY: INSIGHTS AND CHALLENGES
DD Burkardt, JM Graham Jr, PA Sanchez-Lara, B Lee, K Tatton-Brown, ...
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 182 (4), 901-901, 2020
2020
PHENOTYPIC CHARACTERIZATION AND MANAGEMENT OF PATIENTS WITH RECURRENT MUTATION OF HIST1H1E: A SERIES OF 3 NEW CASES AND A REVIEW OF THE LITERATURE
DD Burkardt, K Tatton-Brown, D Amor, MG Au, A McConkie-Rosell, ...
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 741-741, 2019
2019
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