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Pediatrics
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May 23, 2007
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
Yves Sznajer, Boris Keren, Clarisse Baumann, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2006
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region
Luigi Titomanlio, Irina Giurgea, Clarisse Baumann, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2007
Brain anomalies in encephalocraniocutaneous lipomatosis
Ute Moog, Marilyn C Jones, David H Viskochil, et al.
Clinical Dysmorphology
|
March 6, 2023
Bloom syndrome in children: unusual case of early onset lung damage
Houda Ajmi, Ines Trabelsi, Khouloud Rjiba, et al.
European Journal of Medical Genetics
|
December 28, 2005
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?
Alice Hadchouel, Marc Bellaiche, Clarisse Baumann, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2009
Elements of morphology: standard terminology for the lips, mouth, and oral region
John C Carey, M Michael Cohen, Cynthia J R Curry, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2009
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review
Catheline Vilain, Geert Mortier, Guy Van Vliet, et al.
Journal of Molecular Neuroscience : MN
|
May 26, 2019
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation
Joseph Levine, David Cohen, Carole Herman, et al.
British Journal of Haematology
|
September 16, 2022
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
Yoann Vial, Elodie Lainey, Thierry Leblanc, et al.
European Journal of Medical Genetics
|
January 23, 2013
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features
Céline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, et al.
Page
of 29
Search research articles
Search
Showing results (41-50 of 288) with videos related to
Sort By:
Page
of 29
Pediatrics
|
May 23, 2007
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
Yves Sznajer, Boris Keren, Clarisse Baumann, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2006
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region
Luigi Titomanlio, Irina Giurgea, Clarisse Baumann, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2007
Brain anomalies in encephalocraniocutaneous lipomatosis
Ute Moog, Marilyn C Jones, David H Viskochil, et al.
Clinical Dysmorphology
|
March 6, 2023
Bloom syndrome in children: unusual case of early onset lung damage
Houda Ajmi, Ines Trabelsi, Khouloud Rjiba, et al.
European Journal of Medical Genetics
|
December 28, 2005
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?
Alice Hadchouel, Marc Bellaiche, Clarisse Baumann, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2009
Elements of morphology: standard terminology for the lips, mouth, and oral region
John C Carey, M Michael Cohen, Cynthia J R Curry, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2009
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review
Catheline Vilain, Geert Mortier, Guy Van Vliet, et al.
Journal of Molecular Neuroscience : MN
|
May 26, 2019
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation
Joseph Levine, David Cohen, Carole Herman, et al.
British Journal of Haematology
|
September 16, 2022
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
Yoann Vial, Elodie Lainey, Thierry Leblanc, et al.
European Journal of Medical Genetics
|
January 23, 2013
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features
Céline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, et al.
Page
of 29