Search Results - "Burkardt, Deepika D."

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera by Lao, Qizong, Burkardt, Deepika D., Kollender, Sarah, Faucz, Fabio R., Merke, Deborah P.

“…Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with…”
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Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor by Burkardt, Deepika D.

“…John M. Graham, Jr. MD, ScD, pediatrician, Clinical Geneticist and Dysmorphologist, fellow of David Weyhe Smith, one of the founding members of the American…”
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Approach to overgrowth syndromes in the genome era by Burkardt, Deepika D., Tatton‐Brown, Katrina, Dobyns, William, Graham, John M.

“…This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the…”
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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? by Pennisi, Alessandra, Rötig, Agnès, Roux, Charles-Joris, Lévy, Raphaël, Henneke, Marco, Gärtner, Jutta, Teke Kisa, Pelin, Sarioglu, Fatma Ceren, Yiş, Uluç, Konczal, Laura L, Burkardt, Deepika D, Wu, Sulin, Gaignard, Pauline, Besmond, Claude, Hubert, Laurence, Rio, Marlène, Barcia, Giulia, Munnich, Arnold, Boddaert, Nathalie, Schiff, Manuel

“…Biallelic variants in cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA…”
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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes by Pirozzi, Filomena, Lee, Benson, Horsley, Nicole, Burkardt, Deepika D., Dobyns, William B., Graham, John M., Dentici, Maria L., Cesario, Claudia, Schallner, Jens, Porrmann, Joseph, Di Donato, Nataliya, Sanchez‐Lara, Pedro A., Mirzaa, Ghayda M.

“…Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2‐CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part…”
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