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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 10, 2012
Warburg Micro syndrome
Fatma Dursun, Ayla Güven, Deborah Morris-Rosendahl
Neuropediatrics
|
April 12, 2017
Autosomal Recessive Primary Microcephaly (MCPH): An Update
Sami Zaqout, Deborah Morris-Rosendahl, Angela M Kaindl
Thorax
|
May 13, 2022
COPD in the chromosomes
Beatrice Cockbain, Deborah Morris-Rosendahl, Adele Corrigan, et al.
Clinical Medicine (London, England)
|
January 17, 2020
Images of the month 1: Cough before the storm: A case of pulmonary alveolar microlithiasis
Momina F Yazdani, Deborah Morris-Rosendahl, Lucia Chen, et al.
Journal of Neurology
|
May 15, 2013
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation
Lars Schlotawa, Alrun Hotz, Christine Zeschnigk, et al.
Archives of Disease in Childhood
|
August 27, 2025
Exploring demographic and genetic correlates of hearing outcomes in children with primary ciliary dyskinesia: an observational study
Dean Robinson, Catherine Rennie, Claire Hogg, et al.
Clinical and Experimental Dermatology
|
April 18, 2024
A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines
Olivia Kuo, Kevin Molloy, Ataf Sabir, et al.
Pediatric Neurology
|
April 16, 2014
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1
Uluç Yiş, Gökhan Uyanik, Deborah Morris Rosendahl, et al.
Molecular Genetics & Genomic Medicine
|
May 27, 2017
A mutation creating an upstream initiation codon in the <i>SOX9</i> 5' UTR causes acampomelic campomelic dysplasia
Anna E von Bohlen, Johann Böhm, Ramona Pop, et al.
Journal of Human Genetics
|
March 11, 2020
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
Damilola Olubando, Claire Hopton, James Eden, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 10, 2012
Warburg Micro syndrome
Fatma Dursun, Ayla Güven, Deborah Morris-Rosendahl
Neuropediatrics
|
April 12, 2017
Autosomal Recessive Primary Microcephaly (MCPH): An Update
Sami Zaqout, Deborah Morris-Rosendahl, Angela M Kaindl
Thorax
|
May 13, 2022
COPD in the chromosomes
Beatrice Cockbain, Deborah Morris-Rosendahl, Adele Corrigan, et al.
Clinical Medicine (London, England)
|
January 17, 2020
Images of the month 1: Cough before the storm: A case of pulmonary alveolar microlithiasis
Momina F Yazdani, Deborah Morris-Rosendahl, Lucia Chen, et al.
Journal of Neurology
|
May 15, 2013
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation
Lars Schlotawa, Alrun Hotz, Christine Zeschnigk, et al.
Archives of Disease in Childhood
|
August 27, 2025
Exploring demographic and genetic correlates of hearing outcomes in children with primary ciliary dyskinesia: an observational study
Dean Robinson, Catherine Rennie, Claire Hogg, et al.
Clinical and Experimental Dermatology
|
April 18, 2024
A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines
Olivia Kuo, Kevin Molloy, Ataf Sabir, et al.
Pediatric Neurology
|
April 16, 2014
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1
Uluç Yiş, Gökhan Uyanik, Deborah Morris Rosendahl, et al.
Molecular Genetics & Genomic Medicine
|
May 27, 2017
A mutation creating an upstream initiation codon in the <i>SOX9</i> 5' UTR causes acampomelic campomelic dysplasia
Anna E von Bohlen, Johann Böhm, Ramona Pop, et al.
Journal of Human Genetics
|
March 11, 2020
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
Damilola Olubando, Claire Hopton, James Eden, et al.
Page
of 3