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Susan M White

Showing results (11-20 of 159) with videos related to

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American Journal of Medical Genetics. Part A|February 7, 2015
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?Davide Bondavalli, Susan M White, Andrew Steer, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristicsTess Lionti, Susan M Reid, Susan M White, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlatesSarah E Donoghue, James J Pitt, Avihu Boneh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 2, 2020
Response to Ferket et alDeborah Schofield, Luke Rynehart, Rupendra Shresthra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2019
Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomesDeborah Schofield, Luke Rynehart, Rupendra Shresthra, et al.
European Journal of Human Genetics : EJHG|January 20, 2022
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare diseaseStephanie Best, Nada Vidic, Kim An, et al.
American Journal of Medical Genetics. Part A|March 15, 2006
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndromePeter Kannu, Ravi Savarirayan, Linda Ozoemena, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray resultElla J Wilkins, Alison D Archibald, Margaret A Sahhar, et al.
The Journal of Craniofacial Surgery|March 26, 2013
Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasiaAmanda Louise Griffiths, Andrew Heggie, Sarah Holman, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Two cases of trisomy 16 mosaicism ascertained postnatallyClaudine Rieubland, David Francis, Leonie Houben, et al.
Pageof 16

Showing results (11-20 of 159) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|February 7, 2015
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?Davide Bondavalli, Susan M White, Andrew Steer, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristicsTess Lionti, Susan M Reid, Susan M White, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlatesSarah E Donoghue, James J Pitt, Avihu Boneh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 2, 2020
Response to Ferket et alDeborah Schofield, Luke Rynehart, Rupendra Shresthra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2019
Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomesDeborah Schofield, Luke Rynehart, Rupendra Shresthra, et al.
European Journal of Human Genetics : EJHG|January 20, 2022
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare diseaseStephanie Best, Nada Vidic, Kim An, et al.
American Journal of Medical Genetics. Part A|March 15, 2006
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndromePeter Kannu, Ravi Savarirayan, Linda Ozoemena, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray resultElla J Wilkins, Alison D Archibald, Margaret A Sahhar, et al.
The Journal of Craniofacial Surgery|March 26, 2013
Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasiaAmanda Louise Griffiths, Andrew Heggie, Sarah Holman, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Two cases of trisomy 16 mosaicism ascertained postnatallyClaudine Rieubland, David Francis, Leonie Houben, et al.
Pageof 16