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발행년	- (예 : 2010-2015)

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Academic Journal

Rosenhahn, E; O'Brien, TJ; Zaki, MS; Sorge, I; Wieczorek, D; Rostasy, K; Vitobello, A; Nambot, S; Alkuraya, FS; Hashem, MO; Alhashem, A; Tabarki, B; Alamri, AS; Al Safar, AH; Bubshait, DK; Alahmady, NF; Gleeson, JG; Abdel-Hamid, MS; Lesko, N; Ygberg, S; Correia, SP; Wredenberg, A; Alavi, S; Seyedhassani, SM; Nasab, ME; Hussien, H; Omar, TEI; Harzallah, I; Touraine, R; Tajsharghi, H; Morsy, H; Houlden, H; Shahrooei, M; Ghavideldarestani, M; Abdel-Salam, GMH; Torella, A; Zanobio, M; Terrone, G; Brunetti-Pierri, N; Omrani, A; Hentschel, J; Lemke, JR; Sticht, H; Abou Jamra, R; Brown, AEX; Maroofian, R; Platzer, K

American journal of human genetics. 109(8):1421-1435

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Academic Journal

Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; Bertini, E; Boltshauser, E; Zaki, M S; Abdel-Aleem, A; Abdel-Salam, GMH; Bellacchlo, E; Battini, R; Cruse, R P; Dobyns, W B; Krishnamoorthy, K S; Lagier-Tourenne, C; Magee, A; Pascual-Castroviejo, I; Salpietro, C D; Sarco, D; Dallapiccola, B; Gleeson, J G

Annals of Neurology. 59(3)

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Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

Academic Journal

Temtamy, SA; Mannikko, M; Abdel-Salam, GMH; Hassan, NA; Ala-Kokko, L; Afifi, HH

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; JUN 1 2006, 140A 11, p1189-p1195, 7p.

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Aicardi-Goutieres syndrome: clinical and neuroradiological findings of 10 new cases

Academic Journal

Abdel-Salam, GMH; Zaki, MS; Lebon, P; Meguid, NA

ACTA PAEDIATRICA; JUL 2004, 93 7, p929-p936, 8p.

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Association of epilepsy with different groups of microcephaly

Academic Journal

Abdel-Salam, GMH; Halasz, AA; Czeizel, AE

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY; NOV 2000, 42 11, p760-p767, 8p.

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Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome

Academic Journal

Abdel-Salam, GMH; Svekus, A; Pelle, Z; Halasz, AA; Czeizel, AE

GENETIC COUNSELING; 2000, 11 4, p391-p397, 7p.

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A new case of neonatal progeroid syndrome with agenesis of corpus callosum

Academic Journal

Abdel-Salam, GMH; Czeizel, AE

GENETIC COUNSELING; 1999, 10 4, p377-p381, 5p.

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Microcephaly with chorioretinal dysplasia: Characteristic facial features

Academic Journal

Abdel-Salam, GMH; Czeizel, AE; Vogt, G; Imre, L

AMERICAN JOURNAL OF MEDICAL GENETICS; DEC 18 2000, 95 5, p513-p515, 3p.

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Corpus callosum agenesis and microcephaly: Distinct clinical, electroencephalographic, and genetic features.

Academic Journal

Abdel-Salam, GMH; Halasz, AA; Czeizel, AE

EPILEPSIA; 1999, 40 p158-p159, 2p. Supplement: 2

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