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Clinical Dysmorphology
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February 18, 2016
Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings
James J O'Byrne, Ethna Phelan, Ellen Steenackers, et al.
European Journal of Pediatrics
|
December 15, 2018
A review of filamin A mutations and associated interstitial lung disease
Erina Sasaki, Angela T Byrne, Ethna Phelan, et al.
Clinical Dysmorphology
|
June 9, 2006
The tale of a nail sign in chromosome 4q34 deletion syndrome
Julie Vogt, Ethel Ryan, Marc D Tischkowitz, et al.
American Journal of Medical Genetics. Part A
|
September 16, 2004
Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome
Iain M Harrison, Donal Brosnahan, Ethna Phelan, et al.
Clinical Dysmorphology
|
September 15, 2004
Congenital cardiac disease as a core feature of cranio-osteoarthropathy
Susan O'Connell, Mohnish Suri, Desmond Duff, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2012
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash
Ellen Crushell, Daire O'Leary, Alan D Irvine, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2007
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
Ilse Wieland, Roman Makarov, William Reardon, et al.
European Journal of Human Genetics : EJHG
|
January 11, 2007
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
Miriam Entesarian, Johanna Dahlqvist, Vandana Shashi, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Asplenia in ATR-X syndrome: a second report
Ronan T Leahy, Roy K Philip, Richard J Gibbons, et al.
European Journal of Pediatrics
|
May 8, 2008
Clinical and radiological findings in Schinzel-Giedion syndrome
Mudaffer Al-Mudaffer, Christine Oley, Sue Price, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 68) with videos related to
Sort By:
Page
of 7
Clinical Dysmorphology
|
February 18, 2016
Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings
James J O'Byrne, Ethna Phelan, Ellen Steenackers, et al.
European Journal of Pediatrics
|
December 15, 2018
A review of filamin A mutations and associated interstitial lung disease
Erina Sasaki, Angela T Byrne, Ethna Phelan, et al.
Clinical Dysmorphology
|
June 9, 2006
The tale of a nail sign in chromosome 4q34 deletion syndrome
Julie Vogt, Ethel Ryan, Marc D Tischkowitz, et al.
American Journal of Medical Genetics. Part A
|
September 16, 2004
Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome
Iain M Harrison, Donal Brosnahan, Ethna Phelan, et al.
Clinical Dysmorphology
|
September 15, 2004
Congenital cardiac disease as a core feature of cranio-osteoarthropathy
Susan O'Connell, Mohnish Suri, Desmond Duff, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2012
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash
Ellen Crushell, Daire O'Leary, Alan D Irvine, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2007
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
Ilse Wieland, Roman Makarov, William Reardon, et al.
European Journal of Human Genetics : EJHG
|
January 11, 2007
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
Miriam Entesarian, Johanna Dahlqvist, Vandana Shashi, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Asplenia in ATR-X syndrome: a second report
Ronan T Leahy, Roy K Philip, Richard J Gibbons, et al.
European Journal of Pediatrics
|
May 8, 2008
Clinical and radiological findings in Schinzel-Giedion syndrome
Mudaffer Al-Mudaffer, Christine Oley, Sue Price, et al.
Page
of 7