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Human Genetics
|
February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Jean Muller, C Stoetzel, M C Vincent, et al.
Clinical Genetics
|
December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
M Nizon, M Henry, C Michot, et al.
Clinical Genetics
|
March 19, 2010
Delineation of 15q13.3 microdeletions
A Masurel-Paulet, J Andrieux, P Callier, et al.
Molecular Syndromology
|
November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L Desmyter, M Ghassibe, N Revencu, et al.
Neurology. Genetics
|
July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Agnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Human Mutation
|
November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, et al.
Clinical Genetics
|
October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
M Avila, D A Dyment, J V Sagen, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
Clinical Genetics
|
November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
M Lefebvre, D Sanlaville, N Marle, et al.
Genetics in Medicine Open
|
December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainability
P J van der Sluijs, M Gösgens, A J M Dingemans, et al.
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of 11
Search research articles
Search
Showing results (101-110 of 110) with videos related to
Sort By:
Page
of 11
You have reached the last page of results.
This site can display upto 110 results.
Human Genetics
|
February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Jean Muller, C Stoetzel, M C Vincent, et al.
Clinical Genetics
|
December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
M Nizon, M Henry, C Michot, et al.
Clinical Genetics
|
March 19, 2010
Delineation of 15q13.3 microdeletions
A Masurel-Paulet, J Andrieux, P Callier, et al.
Molecular Syndromology
|
November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L Desmyter, M Ghassibe, N Revencu, et al.
Neurology. Genetics
|
July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Agnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Human Mutation
|
November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, et al.
Clinical Genetics
|
October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
M Avila, D A Dyment, J V Sagen, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
Clinical Genetics
|
November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
M Lefebvre, D Sanlaville, N Marle, et al.
Genetics in Medicine Open
|
December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainability
P J van der Sluijs, M Gösgens, A J M Dingemans, et al.
Page
of 11