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/vufind/Search/Results?lookfor=%22Abdel-Salam%2C+G+M+H%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Abdel-Salam%2C+G+M+H%22&type=Person&sort=year
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PubPharm (18)
1
CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT
enthalten in:
Genetic counseling (Geneva, Switzerland)
| 2016
von
Abdel-Hamid, M.
|
Ismail, M.
|
Darwish, H.
| +3
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2
A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION
enthalten in:
Genetic counseling (Geneva, Switzerland)
| 2015
von
Eid, M.
|
Eid, M.
|
Kamel, A.
| +2
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3
A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION
enthalten in:
Genetic counseling
| 2015
von
Eid, M.
|
Eid, M.
|
Kamel, A.
| +2
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4
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
enthalten in:
European journal of human genetics : EJHG
| 2013
von
Travaglini, L.
|
Brancati, F.
|
Silhavy, J.
| +124
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5
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
enthalten in:
Human mutation
| 2010
von
Iannicelli, M.
|
Brancati, F.
|
Mougou-Zerelli, S.
| +129
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6
Chilblains as a diagnostic sign of aicardi-goutières syndrome
enthalten in:
Neuropediatrics
| 2010
von
Abdel-Salam, G.
|
El-Kamah, G.
|
Rice, G.
| +8
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7
Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome
enthalten in:
Neuropediatrics
| 2010
von
Abdel-Salam, G.
|
El-Kamah, G.
|
Rice, G.
| +8
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8
Expanding CEP290 mutational spectrum in ciliopathies
enthalten in:
American journal of medical genetics. Part A
| 2009
von
Travaglini, L.
|
Brancati, F.
|
Attie-Bitach, T.
| +98
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9
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
enthalten in:
American journal of medical genetics. Part A
| 2008
von
Briggs, T.
|
Abdel-Salam, G.
|
Balicki, M.
| +21
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10
Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome : a rare combination
enthalten in:
Genetic counseling (Geneva, Switzerland)
| 2008
von
Abdel-Salam, G.
|
Afifi, H.
|
Eid, M.
| +2
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18
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13
Gedruckte Aufsätze
5
E-Artikel
5
E-Ressourcen
Zeitschriftentitel
5
Genetic counseling
4
Genetic counseling (Geneva, Switzerland)
2
American journal of medical genetics. Part A
2
Neuropediatrics
1
Acta paediatrica (Oslo, Norway : 1992)
1
American journal of medical genetics / C
1
Eastern Mediterranean health journal = La revue...
1
European journal of human genetics : EJHG
1
Human mutation
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Thema
11
Journal Article
6
Case Reports
4
Research Support, Non-U.S. Gov't
3
Research Support, N.I.H., Extramural
1
ASPM protein, human
1
Abnormalities, Multiple - genetics
1
Antigens, Neoplasm
1
Cell Cycle Proteins
1
Cep290 protein, human
1
Chromosomes, Human, Pair 20 - genetics
1
Chromosomes, Human, Pair 7 - genetics
1
Cytoskeletal Proteins
1
EC 3.1.3.2
1
EC 3.1.3.36
1
EC 3.1.5.-
1
EC 3.1.6.2
1
EC 3.6.5.2
1
Intellectual Disability - genetics
1
Membrane Proteins
1
Monomeric GTP-Binding Proteins
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Erscheinungszeitraum
17
2000-
1
1900-1999
Erscheinungsjahr(e)
Von:
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Sprache
12
Englisch
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