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Annales De Genetique
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December 9, 2003
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Alain Verloes, Jean-Paul Misson, Philippe Gillet, et al.
European Journal of Human Genetics : EJHG
|
July 3, 2025
European training requirements for the specialty of medical genetics
Ute Moog, Jonathan Berg, Siobhan Kerr, et al.
European Journal of Human Genetics : EJHG
|
April 9, 2009
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
Claire Beneteau, Hélène Cavé, Anne Moncla, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2006
Orofaciodigital syndrome with cerebral dysgenesis
Gaetan Lesca, Catherine Fallet-Bianco, Henri Plauchu, et al.
European Journal of Medical Genetics
|
November 12, 2013
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome
Hatice Koçak Eker, Betül Emine Derinkuyu, Sevim Ünal, et al.
European Journal of Medical Genetics
|
July 5, 2008
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement
Isabelle Bailleul-Forestier, Ariane Berdal, Frans Vinckier, et al.
European Journal of Pediatrics
|
September 25, 2010
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation
Ola Khalifa, Faiqa Imtiaz, Nadia Al-Sakati, et al.
European Journal of Medical Genetics
|
November 29, 2023
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype
Thalia Papadopoulos, Pauline Gaignard, Manuel Schiff, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
Lilia Kraoua, Hubert Journel, Philippe Bonnet, et al.
European Journal of Human Genetics : EJHG
|
May 30, 2003
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature
Céline Dupont, Eva Pipiras, Sandra Chantot-Bastaraud, et al.
Page
of 29
Search research articles
Search
Showing results (31-40 of 288) with videos related to
Sort By:
Page
of 29
Annales De Genetique
|
December 9, 2003
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Alain Verloes, Jean-Paul Misson, Philippe Gillet, et al.
European Journal of Human Genetics : EJHG
|
July 3, 2025
European training requirements for the specialty of medical genetics
Ute Moog, Jonathan Berg, Siobhan Kerr, et al.
European Journal of Human Genetics : EJHG
|
April 9, 2009
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
Claire Beneteau, Hélène Cavé, Anne Moncla, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2006
Orofaciodigital syndrome with cerebral dysgenesis
Gaetan Lesca, Catherine Fallet-Bianco, Henri Plauchu, et al.
European Journal of Medical Genetics
|
November 12, 2013
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome
Hatice Koçak Eker, Betül Emine Derinkuyu, Sevim Ünal, et al.
European Journal of Medical Genetics
|
July 5, 2008
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement
Isabelle Bailleul-Forestier, Ariane Berdal, Frans Vinckier, et al.
European Journal of Pediatrics
|
September 25, 2010
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation
Ola Khalifa, Faiqa Imtiaz, Nadia Al-Sakati, et al.
European Journal of Medical Genetics
|
November 29, 2023
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype
Thalia Papadopoulos, Pauline Gaignard, Manuel Schiff, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
Lilia Kraoua, Hubert Journel, Philippe Bonnet, et al.
European Journal of Human Genetics : EJHG
|
May 30, 2003
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature
Céline Dupont, Eva Pipiras, Sandra Chantot-Bastaraud, et al.
Page
of 29