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American Journal of Medical Genetics. Part A
|
November 3, 2007
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
Anne Ronan, Karin Buiting, Tracy Dudding
American Journal of Medical Genetics. Part A
|
May 13, 2017
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease
Anne Ronan, Angela Ingrey, Natalia Murray, et al.
Journal of Health, Population, and Nutrition
|
May 23, 2014
Diagnosis of pneumonia in children with dehydrating diarrhoea
Debasish Saha, Anne Ronan, Wasif Ali Khan, et al.
BMJ Case Reports
|
June 21, 2011
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Anne Ronan, Kerry Fagan, Louise Christie, et al.
Journal of Medical Genetics
|
January 24, 2007
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Anne Ronan, Kerry Fagan, Louise Christie, et al.
European Journal of Medical Genetics
|
March 14, 2017
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence
Natalia Murray, B Hanna, Nicole Graf, et al.
ANZ Journal of Surgery
|
November 1, 2021
Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic
Rebecca Anning, Johnson Huang, Anne Ronan, et al.
Molecular Syndromology
|
March 30, 2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing
Benjamin Kamien, Anne Ronan, Gemma Poke, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 24, 2020
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia
Hui Peng, Zandra A Jenkins, Ruby White, et al.
Page
of 3
Search research articles
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Showing results (1-10 of 23) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
November 3, 2007
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
Anne Ronan, Karin Buiting, Tracy Dudding
American Journal of Medical Genetics. Part A
|
May 13, 2017
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease
Anne Ronan, Angela Ingrey, Natalia Murray, et al.
Journal of Health, Population, and Nutrition
|
May 23, 2014
Diagnosis of pneumonia in children with dehydrating diarrhoea
Debasish Saha, Anne Ronan, Wasif Ali Khan, et al.
BMJ Case Reports
|
June 21, 2011
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Anne Ronan, Kerry Fagan, Louise Christie, et al.
Journal of Medical Genetics
|
January 24, 2007
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Anne Ronan, Kerry Fagan, Louise Christie, et al.
European Journal of Medical Genetics
|
March 14, 2017
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence
Natalia Murray, B Hanna, Nicole Graf, et al.
ANZ Journal of Surgery
|
November 1, 2021
Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic
Rebecca Anning, Johnson Huang, Anne Ronan, et al.
Molecular Syndromology
|
March 30, 2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing
Benjamin Kamien, Anne Ronan, Gemma Poke, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 24, 2020
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia
Hui Peng, Zandra A Jenkins, Ruby White, et al.
Page
of 3