Author/Creator: Marwaha, Ashish - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Marwaha, Ashish

1. Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. Issue 6 (24th March 2020)

Authors:: Raghuram, Nikhil; Marwaha, Ashish; Greer, Mary‐Louise C.; Gauda, Estelle; Chitayat, David
Journal:: American journal of medical genetics
Issue:: Volume 182:Issue 6(2020)
Page Start:: 1496
Record Type:: Journal Article
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2. Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy. Issue 8 (30th June 2020)

Authors:: Earl, Brian R.; Szybowska, Marta; Marwaha, Ashish; Belostotsky, Vladimir; Lara‐Corrales, Irene; Pope, Elena; Kannu, Peter
Journal:: Journal of dermatology
Issue:: Volume 47:Issue 8(2020)
Page Start:: 898
Record Type:: Journal Article
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3. Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect. Issue 6 (28th February 2022)

Authors:: Yang, Xiao‐Ru; Marwaha, Ashish
Journal:: American journal of medical genetics
Issue:: Volume 188:Issue 6(2022)
Page Start:: 1928
Record Type:: Journal Article
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4. The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning. Issue 4 (8th February 2021)

Authors:: Marwaha, Ashish; Chitayat, David; Meyn, M. Stephen; Mendoza‐Londono, Roberto; Chad, Lauren
Journal:: American journal of medical genetics
Issue:: Volume 185:Issue 4(2021)
Page Start:: 1151
Record Type:: Journal Article
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5. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder. Issue 5 (18th January 2022)

Authors:: Marwaha, Ashish; Costain, Gregory; Cytrynbaum, Cheryl; Mendoza‐Londono, Roberto; Chad, Lauren; Awamleh, Zain; Chater‐Diehl, Eric; Choufani, Sanaa; Weksberg, Rosanna
Journal:: American journal of medical genetics
Issue:: Volume 188:Issue 5(2022)
Page Start:: 1368
Record Type:: Journal Article
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6. Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome. Issue 1 (1st October 2020)

Authors:: Marwaha, Ashish; Ibrahim, Judy; Rice, Taylor; Hamwi, Nadia; Rupar, Charles Anthony; Cresswell, David; Prasad, Chitra; Schulze, Andreas
Journal:: JIMD reports
Issue:: Volume 57:Issue 1(2021)
Page Start:: 9
Record Type:: Journal Article
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