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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 13, 2016
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients
Maha S Zaki, Laila Selim, Hala T El-Bassyouni, et al.
Nature Medicine
|
May 31, 2011
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
Madeline A Lancaster, Dipika J Gopal, Joon Kim, et al.
American Journal of Human Genetics
|
May 13, 2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
Melissa A Parisi, Craig L Bennett, Melissa L Eckert, et al.
American Journal of Medical Genetics. Part A
|
May 25, 2013
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
Alex R Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, et al.
European Journal of Human Genetics : EJHG
|
April 7, 2021
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
Shereen G Ghosh, Martin W Breuss, Zinayida Schlachetzki, et al.
Nature Communications
|
July 9, 2020
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair
Hana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2004
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
Joseph G Gleeson, Lesley C Keeler, Melissa A Parisi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
October 30, 2020
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
Maha S Zaki, Mahmoud Y Issa, Manal M Thomas, et al.
Nature Medicine
|
November 3, 2015
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
Seung Tae Baek, Brett Copeland, Eun-Jin Yun, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 27, 2013
CCDC41 is required for ciliary vesicle docking to the mother centriole
Kwangsic Joo, Chang Gun Kim, Mi-Sun Lee, et al.
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of 33
Search research articles
Search
Showing results (121-130 of 325) with videos related to
Sort By:
Page
of 33
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 13, 2016
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients
Maha S Zaki, Laila Selim, Hala T El-Bassyouni, et al.
Nature Medicine
|
May 31, 2011
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
Madeline A Lancaster, Dipika J Gopal, Joon Kim, et al.
American Journal of Human Genetics
|
May 13, 2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
Melissa A Parisi, Craig L Bennett, Melissa L Eckert, et al.
American Journal of Medical Genetics. Part A
|
May 25, 2013
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
Alex R Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, et al.
European Journal of Human Genetics : EJHG
|
April 7, 2021
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
Shereen G Ghosh, Martin W Breuss, Zinayida Schlachetzki, et al.
Nature Communications
|
July 9, 2020
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair
Hana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2004
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
Joseph G Gleeson, Lesley C Keeler, Melissa A Parisi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
October 30, 2020
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
Maha S Zaki, Mahmoud Y Issa, Manal M Thomas, et al.
Nature Medicine
|
November 3, 2015
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
Seung Tae Baek, Brett Copeland, Eun-Jin Yun, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 27, 2013
CCDC41 is required for ciliary vesicle docking to the mother centriole
Kwangsic Joo, Chang Gun Kim, Mi-Sun Lee, et al.
Page
of 33