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1 . Academic Journal
Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes
저자
by
Pamela Bowman
;
Kashyap A Patel
;
Timothy J McDonald
;
Jens J Holst
;
Bolette Hartmann
, et al.
소스
Journal of Diabetes Investigation, Vol 14, Iss 12, Pp 1378-1382 (2023)
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7 . Academic Journal
SavvyCNV: Genome-wide CNV calling from off-target reads.
저자
by
Thomas W Laver
;
Elisa De Franco
;
Matthew B Johnson
;
Kashyap A Patel
;
Sian Ellard
, et al.
소스
PLoS Computational Biology, Vol 18, Iss 3, p e1009940 (2022)
Open Access (DOAJ)
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7 .
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
저자
by
Jasmin J Hopkins
;
Alexandra J Childs
;
Jayne A L Houghton
;
Thomas I Hewat
;
Navoda Atapattu
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. 108:680-687
Full Text (OUP)
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7 .
PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile
저자
by
Kashyap A Patel
;
Shivang Burman
;
Thomas W Laver
;
Andrew T Hattersley
;
Timothy M Frayling
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. 107:e2318-e2323
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7 .
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
저자
by
Uyenlinh L Mirshahi
;
Kevin Colclough
;
Caroline F Wright
;
Andrew R Wood
;
Robin N Beaumont
, et al.
소스
American journal of human genetics
. 109(11)
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7 .
Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY
저자
by
Kashyap A Patel
;
Michael N Weedon
;
Andrew T Hattersley
;
Sian Ellard
;
Caroline F Wright
, et al.
소스
Open Access (OpenAIRE)
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7 .
Loss of MANF Causes Childhood Onset Syndromic Diabetes due to Increased Endoplasmic Reticulum Stress
저자
by
Timo Otonkoski
;
Jonna Saarimäki-Vire
;
Andrew Hattersley
;
Maria Lindahl
;
Matthew Wakeling
, et al.
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7 .
Extended data Wellcome Open Research 16097.pdf
저자
by
Hughes, Alice
;
M. Geoffrey Hayes
;
Egan, Aoife M.
;
Kashyap A Patel
;
Scholtens, Denise M.
, et al.
소스
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