• Use the keyword text box above to search across all volumes for abstracts and authors.
  • You can filter the results by adjusting the search options under 'filter search results'.
  • Use the advanced search options to limit or expand the scope of the results found.

Showing page 1 of results 1 - 10 of about 12 matches for "nicholas-adeline-k"

100% match
9 hit(s)
HTML
34kb

A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome
Edna Roche; Anne McGowan; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta
http://www.endocrine-abstracts.org/ea/0051/ea0051p060.htm
Published: 2017-10-30

100% match
9 hit(s)
HTML
30kb

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus
Walree Eva van; Soo-Mi Park; Elena Bochukova; Adeline K Nicholas; Greta Lyons; V Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0051/ea0051oc5.8.htm
Published: 2017-10-30

100% match
9 hit(s)
HTML
33kb

Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity
Walree Eva van; A Emile J Hendriks; Carla Moran; Adeline K Nicholas; Greta Lyons; Anne McGowan; David Halsall; Sue Oddy; V Krish
http://www.endocrine-abstracts.org/ea/0051/ea0051oc2.1.htm
Published: 2017-10-30

100% match
9 hit(s)
HTML
34kb

A novel IGSF1 mutation in a large Irish kindred highlights the need for systematic familial endocrine screening in the IGSF1 deficiency syndrome
Anne McGowan; Edna Roche; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta
http://www.endocrine-abstracts.org/ea/0050/ea0050oc2.3.htm
Published: 2017-10-20

100% match
9 hit(s)
HTML
31kb

Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family
Caroline Ponmani; Abigail Atterbury; Senthil Seniappan; Nadia Schoenmakers; Adeline K Nicholas; Krishna Chatterjee; Mehul Dattan
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d2-274.htm
Published: 2014-08-28

100% match
9 hit(s)
HTML
31kb

Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop ‘True’ congenital hypothyroidism
Catherine Peters; Adeline K. Nicholas; Greta Lyons; Shirley Langham; Eva G. Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazz
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.7.htm
Published: 2016-11-14

100% match
9 hit(s)
HTML
31kb

Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop ‘True’ Congenital Hypothyroidism
Catherine Peters; Adeline K Nicholas; Greta Lyons; Shirley Langham; Eva Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazzola;
http://www.endocrine-abstracts.org/ea/0044/ea0044oc3.1.htm
Published: 2016-10-14

100% match
9 hit(s)
HTML
29kb

Severe 21-hydroxylase deficiency congenital adrenal hyperplasia and congenital hypothyroidism due to thyroglobulin mutations in a single family: two distinct genetic disorders with phenotypic variability within a single family
Caroline Ponmani; Nadia Schoenmakers; Gill Rumsby; Adeline K Nicholas; Krishna Chatterjee; Mehul Dattani
http://www.endocrine-abstracts.org/ea/0033/ea0033p6.htm
Published: 2013-11-01

100% match
9 hit(s)
HTML
36kb

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism
Nadia Schoenmakers; Hakan Cangul; Adeline K Nicholas; Erik Schoenmakers; Greta Lyons; Mehul Dattani; Catherine Peters; Shirley L
http://www.endocrine-abstracts.org/ea/0033/ea0033oc2.9.htm
Published: 2013-11-01

100% match
9 hit(s)
HTML
29kb

Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance
Adeline K Nicholas; Safia Jaleel; Erik Schoenmakers; Mehul Dattani; Edna Roche; V Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0036/ea0036P83.htm
Published: 2014-10-14

Filter search results





Publication date between
 and

Sort results by
 

Search for:

Similarity to search phrase (e.g. jones matches james):

My recent searches

nicholas-adeline-k (<1 min ago)

My recently viewed abstracts

No recent abstracts.