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Annals of Neurology
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October 23, 1997
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees
S Claes, K Devriendt, L Lagae, et al.
International Journal of Pediatric Otorhinolaryngology
|
June 21, 2015
Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre
M Rathé, M Rayyan, J Schoenaers, et al.
Prenatal Diagnosis
|
December 18, 2001
Semilobar holoprosencephaly in a 46,XY female fetus
I Witters, P Moerman, M Muenke, et al.
Journal of Medical Genetics
|
April 3, 2004
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients
A Rauch, K Devriendt, A Koch, et al.
Genetic Counseling (Geneva, Switzerland)
|
August 6, 2005
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes
B Dimitrov, I Balikova, I Bradinova, et al.
American Journal of Medical Genetics
|
September 5, 2002
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects
Ph Debeer, T J L de Ravel, K Devriendt, et al.
Annals of Neurology
|
November 1, 1996
Clinical and molecular genetic features of congenital spinal muscular atrophy
K Devriendt, M Lammens, E Schollen, et al.
Journal of Medical Genetics
|
May 3, 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
T Rossenbacker, E Schollen, C Kuipéri, et al.
European Journal of Medical Genetics
|
December 28, 2005
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
Ph Debeer, H Van Esch, C Huysmans, et al.
Journal of Medical Genetics
|
May 15, 2003
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
D Castermans, V Wilquet, E Parthoens, et al.
Page
of 23
Search research articles
Search
Showing results (171-180 of 230) with videos related to
Sort By:
Page
of 23
Annals of Neurology
|
October 23, 1997
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees
S Claes, K Devriendt, L Lagae, et al.
International Journal of Pediatric Otorhinolaryngology
|
June 21, 2015
Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre
M Rathé, M Rayyan, J Schoenaers, et al.
Prenatal Diagnosis
|
December 18, 2001
Semilobar holoprosencephaly in a 46,XY female fetus
I Witters, P Moerman, M Muenke, et al.
Journal of Medical Genetics
|
April 3, 2004
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients
A Rauch, K Devriendt, A Koch, et al.
Genetic Counseling (Geneva, Switzerland)
|
August 6, 2005
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes
B Dimitrov, I Balikova, I Bradinova, et al.
American Journal of Medical Genetics
|
September 5, 2002
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects
Ph Debeer, T J L de Ravel, K Devriendt, et al.
Annals of Neurology
|
November 1, 1996
Clinical and molecular genetic features of congenital spinal muscular atrophy
K Devriendt, M Lammens, E Schollen, et al.
Journal of Medical Genetics
|
May 3, 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
T Rossenbacker, E Schollen, C Kuipéri, et al.
European Journal of Medical Genetics
|
December 28, 2005
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
Ph Debeer, H Van Esch, C Huysmans, et al.
Journal of Medical Genetics
|
May 15, 2003
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
D Castermans, V Wilquet, E Parthoens, et al.
Page
of 23