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Human Mutation
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May 28, 2010
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies
Alexander W Wyatt, Robert J Osborne, Helen Stewart, et al.
European Journal of Medical Genetics
|
April 14, 2023
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant
Richard C Caswell, Julia Baptista, Lauren M Cairns, et al.
BMJ Case Reports
|
March 24, 2012
Fragile XE: an important differential diagnosis
Venkataraman Krishnan, Penny Clouston, Mark Crocker, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2021
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype
Adam Jackson, Siddharth Banka, Helen Stewart, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 27, 2007
Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia
Haya Alkhayyat, Henrik B T Christesen, James Steer, et al.
Clinical & Experimental Ophthalmology
|
April 10, 2013
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
Neena M Peter, Martin Leyland, Hardeep S Mudhar, et al.
Journal of Pediatric Oncology Nursing : Official Journal of the Association of Pediatric Oncology Nurses
|
March 3, 2007
Pediatric brain tumor patients: their parents' perceptions of the hospital experience
Alun C Jackson, Helen Stewart, Maree O'Toole, et al.
Clinical Genetics
|
May 9, 2023
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome
Mona Hashim, Helen Stewart, Jing Yu, et al.
Neuromuscular Disorders : NMD
|
August 22, 2006
Fetal arthrogryposis and maternal serum antibodies
Paola Dalton, Linda Clover, Robert Wallerstein, et al.
The Journal of Physical Chemistry Letters
|
August 23, 2019
Effects of <i>cis</i>-<i>trans</i> Conformation between Thiophene Rings on Conductance of Oligothiophenes
Tatsuhiko Ohto, Takuya Inoue, Helen Stewart, et al.
Page
of 10
Search research articles
Search
Showing results (11-20 of 93) with videos related to
Sort By:
Page
of 10
Human Mutation
|
May 28, 2010
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies
Alexander W Wyatt, Robert J Osborne, Helen Stewart, et al.
European Journal of Medical Genetics
|
April 14, 2023
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant
Richard C Caswell, Julia Baptista, Lauren M Cairns, et al.
BMJ Case Reports
|
March 24, 2012
Fragile XE: an important differential diagnosis
Venkataraman Krishnan, Penny Clouston, Mark Crocker, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2021
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype
Adam Jackson, Siddharth Banka, Helen Stewart, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 27, 2007
Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia
Haya Alkhayyat, Henrik B T Christesen, James Steer, et al.
Clinical & Experimental Ophthalmology
|
April 10, 2013
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
Neena M Peter, Martin Leyland, Hardeep S Mudhar, et al.
Journal of Pediatric Oncology Nursing : Official Journal of the Association of Pediatric Oncology Nurses
|
March 3, 2007
Pediatric brain tumor patients: their parents' perceptions of the hospital experience
Alun C Jackson, Helen Stewart, Maree O'Toole, et al.
Clinical Genetics
|
May 9, 2023
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome
Mona Hashim, Helen Stewart, Jing Yu, et al.
Neuromuscular Disorders : NMD
|
August 22, 2006
Fetal arthrogryposis and maternal serum antibodies
Paola Dalton, Linda Clover, Robert Wallerstein, et al.
The Journal of Physical Chemistry Letters
|
August 23, 2019
Effects of <i>cis</i>-<i>trans</i> Conformation between Thiophene Rings on Conductance of Oligothiophenes
Tatsuhiko Ohto, Takuya Inoue, Helen Stewart, et al.
Page
of 10