| ? Tranzitornyy? neonatal'nyy diabet vsledstvie duplikatsii v 6-y khromosome [dup (6)(q24. 2q24. 2) de novo] II Dedov, VA Peterkova, OV Remizov, LN Shcherbacheva, EV Panfilova, ... Diabetes mellitus 5 (2), 18-23, 2002 | | 2002 |
| «Транзиторный» неонатальный диабет вследствие дупликации в 6-й хромосоме [dup (6)(q24. 2q24. 2) de novo] ИИ Дедов, ВА Петеркова, ОВ Ремизов, ЛН Щербачева, ЕВ Панфилова, ... Сахарный диабет, 18-23, 2002 | 7 | 2002 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 388 | 2021 |
| 3D analysis of facial morphology P Hammond, TJ Hutton, JE Allanson, LE Campbell, RCM Hennekam, ... American journal of medical genetics Part A 126 (4), 339-348, 2004 | 300 | 2004 |
| 40th EASD Annual Meeting of the European Association for the Study of Diabetes: Munich, Germany, 5–9 September 2004 M Veitenhansl, K Stegner, FX Hierl, C Dieterle, H Feldmeier, B Gutt, ... Diabetologia 47, A1-A464, 2004 | 51 | 2004 |
| 6q24 transient neonatal diabetes IK Temple, JPH Shield Reviews in endocrine and metabolic disorders 11, 199-204, 2010 | 93 | 2010 |
| 6q24 Transient Neonatal Diabetes Mellitus (TNDM)-16 years of data collection. S Kabwama, L Docherty, E Cook, L Harrison, S Ellard, S Ennis, J Shield, ... Endocrine Abstracts 28, 2012 | | 2012 |
| 6q24 Transient Neonatal Diabetes Mellitus-16 years of data collection S Kabwama, LE Docherty, E Cook, L Harrison, S Ellard, S Ennis, ... Archives of Disease in Childhood 97 (Suppl 1), A102-A102, 2012 | | 2012 |
| 762-4 Importance of Microdeletions of Chromosomal Region 22q11 In the Etiology of Congenital Conotruncal Malformations: A 2 Year Prospective Study SA Webber, E Hatchwell, JCK Barber, JA Crolla, AP Salmon, BR Keeton, ... Journal of the American College of Cardiology 25 (2), 271A, 1995 | 1 | 1995 |
| A 2.3 Mb deletion of 17q24. 2–q24. 3 associated with ‘Carney Complex plus’ M Blyth, S Huang, V Maloney, JA Crolla, IK Temple European journal of medical genetics 51 (6), 672-678, 2008 | 34 | 2008 |
| A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant? K Buiting, B Dittrich, B Dworniczak, I Lerer, D Abeliovich, S Cottrell, ... The American Journal of Human Genetics 65 (6), 1588-1594, 1999 | 19 | 1999 |
| A case of Baller—Gerold syndrome G Markose, J Fairhurst, IK Temple Clinical Dysmorphology 8 (1), 69-72, 1999 | 3 | 1999 |
| A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9 TA WILKINSON, RS JAMES, JA CROLLA, AE COCKWELL, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 1996 | 38 | 1996 |
| A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth … ASN Alhendi, G Gazdagh, D Lim, D McMullan, M Wright, IK Temple, ... American Journal of Medical Genetics Part A 194 (2), 383-388, 2024 | 1 | 2024 |
| A clustered randomised controlled trial of the location of genetic counsellor clinical genetics appointments G Westwood, IK Temple, AM Lucassen, RM Pickering, SM Latter, P Little Journal of Medical Genetics 41, S45, 2004 | | 2004 |
| A diagnosis for all rare genetic diseases: the horizon and the next frontiers KM Boycott, T Hartley, LG Biesecker, RA Gibbs, AM Innes, O Riess, ... Cell 177 (1), 32-37, 2019 | 128 | 2019 |
| A familial disorder of altered DNA-methylation A Caliebe, J Richter, O Ammerpohl, D Kanber, J Beygo, S Bens, A Haake, ... Journal of Medical Genetics 51 (6), 407-412, 2014 | 29 | 2014 |
| A female case of Sedaghatian type spondylometaphyseal dysplasia N Foulds, J Fairhurst, IK Temple, S Cade, C Groves, T Lancaster American Journal of Medical Genetics Part A 118 (4), 377-381, 2003 | 14 | 2003 |
| A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome–a Case Report N Yordanova, V Iotova, DJG Mackay Journal of clinical research in pediatric endocrinology, 0-0, 2022 | | 2022 |
| A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus DJG Mackay, SE Boonen, J Clayton-Smith, J Goodship, JMD Hahnemann, ... Human genetics 120, 262-269, 2006 | 192 | 2006 |
