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american journal of medical genetics part a

ISSN 1552-4833· EN

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41.2/100
Journament Score
#5,766
Journament Rank
13
Articles Indexed

About This Journal

Short Name am j med genet a
Abbreviated Name am j med genet a
ISSN 1552-4833

Indexings

ncbi ulakbim sci

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Publications Per Year

Articles (13)

2012
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
Velinov, Milen;Ahmad, Ausaf;Brown-Kipphut, Brigette;Shafiq, Mustafa;Blau, Jonathan;Cooma, Ruby;Roth, Philip;Iqbal, M Anwar;
Vol. 158A , No. 12 , pp. 3201-6
367 views DOI Abstract
2020
Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.
Yang, Chia-Feng;Niu, Dau-Ming;Tai, Shyh-Kuan;Wang, Ting-Hao;Su, Hsiao-Ting;Huang, Ling-Yi;Soong, Wen-Jue;
353 views DOI Abstract
2020
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum, Mirna;Bruel, Ange-Line;Crenshaw, Melissa L;Delanne, Julian;Wentzensen, Ingrid M;McWalter, Kirsty;Dent, Karin M;Vitobello, Antonio;Kuentz, Paul;Thevenon, Julien;Duffourd, Yannis;Thauvin-Robinet, Christel;Faivre, Laurence;
349 views DOI Abstract
2020
Natural history of achondroplasia: A retrospective review of longitudinal clinical data.
Okenfuss, Ericka;Moghaddam, Billur;Avins, Andrew L;
347 views DOI Abstract
2011
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
Kędzierska, Karolina;Kwiatkowski, Sebastian;Torbé, Andrzej;Marchelek-Myśliwiec, Małgorzata;Marcinkiewicz, Oliwia;Bobrek-Lesiakowska, Katarzyna;Gołembiewska, Edyta;Kwiatkowska, Ewa;Rzepka, Rafał;Ciechanowski, Kazimierz;Czajka, Ryszard;Santer, René;
Vol. 155A , No. 8 , pp. 2028-30
328 views DOI
2017
Descriptive study of the complete blood count in newborn infants with Down syndrome.
Martínez-Macías, Francisco Javier;Bobadilla-Morales, Lucina;González-Cruz, Janet;Quiles-Corona, Moisés;Corona-Rivera, Alfredo;Peña-Padilla, Christian;Orozco-Vela, Mireya;Silva-Cruz, Rocío;Velarde-Rivera, Fernando;Corona-Rivera, Jorge Román;
Vol. 173 , No. 4 , pp. 897-904
322 views DOI Abstract
2019
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras, Natasha;Ha, Thoa K;Rego, Shannon;Martin, Pierre-Marie;Barroso, Eva;Slavotinek, Anne M;Cilio, Maria R;
312 views DOI Abstract
2016
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
Tüysüz, Beyhan;Ercan-Sencicek, Adife Gülhan;Canpolat, Nur;Koparır, Asuman;Yılmaz, Saliha;Kılıçaslan, Işın;Gülez, Burcu;Bilguvar, Kaya;Günel, Murat;
Vol. 170A , No. 5 , pp. 1187-95
312 views DOI Abstract
2020
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.
Santoro, Stephanie L;Chicoine, Brian;Jasien, Joan M;Kim, Judy Lu;Stephens, Mary;Bulova, Peter;Capone, George;
297 views DOI Abstract
2005
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Caldeira Araújo, H;Smit, W;Verhoeven, N M;Salomons, G S;Silva, S;Vasconcelos, R;Tomás, H;Tavares de Almeida, I;Jakobs, C;Duran, M;
Vol. 133A , No. 2 , pp. 122-7
297 views Abstract
2020
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.
Santoro, Stephanie L;Chicoine, Brian;Jasien, Joan M;Kim, Judy Lu;Stephens, Mary;Bulova, Peter;Capone, George;
297 views DOI Abstract
2020
Natural history of achondroplasia: A retrospective review of longitudinal clinical data.
Okenfuss, Ericka;Moghaddam, Billur;Avins, Andrew L;
347 views DOI Abstract
2020
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum, Mirna;Bruel, Ange-Line;Crenshaw, Melissa L;Delanne, Julian;Wentzensen, Ingrid M;McWalter, Kirsty;Dent, Karin M;Vitobello, Antonio;Kuentz, Paul;Thevenon, Julien;Duffourd, Yannis;Thauvin-Robinet, Christel;Faivre, Laurence;
349 views DOI Abstract
2020
Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.
Yang, Chia-Feng;Niu, Dau-Ming;Tai, Shyh-Kuan;Wang, Ting-Hao;Su, Hsiao-Ting;Huang, Ling-Yi;Soong, Wen-Jue;
353 views DOI Abstract
2019
Turner syndrome in diverse populations.
Kruszka, Paul;Addissie, Yonit A;Tekendo-Ngongang, Cedrik;Jones, Kelly L;Savage, Sarah K;Gupta, Neerja;Sirisena, Nirmala D;Dissanayake, Vajira H W;Paththinige, C Sampath;Aravena, Teresa;Nampoothiri, Sheela;Yesodharan, Dhanya;Girisha, Katta M;Patil, Siddaramappa Jagdish;Jamuar, Saumya Shekhar;Goh, Jasmine Chew-Yin;Utari, Agustini;Sihombing, Nydia;Mishra, Rupesh;Chitrakar, Neer Shoba;Iriele, Brenda C;Lulseged, Ezana;Megarbane, Andre;Uwineza, Annette;Oyenusi, Elizabeth Eberechi;Olopade, Oluwarotimi Bolaji;Fasanmade, Olufemi Adetola;Duenas-Roque, Milagros M;Thong, Meow-Keong;Tung, Joanna Y L;Mok, Gary T K;Fleischer, Nicole;Rwegerera, Godfrey M;de Herreros, María Beatriz;Watts, Johnathan;Fieggen, Karen;Huckstadt, Victoria;Moresco, Angélica;Obregon, María Gabriela;Hussen, Dalia Farouk;Ashaat, Neveen A;Ashaat, Engy A;Chung, Brian H Y;Badoe, Eben;Faradz, Sultana M H;El Ruby, Mona O;Shotelersuk, Vorasuk;Wonkam, Ambroise;Ekure, Ekanem Nsikak;Phadke, Shubha R;Richieri-Costa, Antonio;Muenke, Maximilian;
284 views DOI Abstract
2019
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.
de La Dure-Molla, Muriel;Fournier, Benjamin Philippe;Manzanares, Maria Cristina;Acevedo, Ana Carolina;Hennekam, Raoul C;Friedlander, Lisa;Boy-Lefèvre, Marie-Laure;Kerner, Stephane;Toupenay, Steve;Garrec, Pascal;Vi-Fane, Brigite;Felizardo, Rufino;Berteretche, Marie-Violaine;Jordan, Laurence;Ferré, François;Clauss, François;Jung, Sophie;de Chalendar, Myriam;Troester, Sebastien;Kawczynski, Marzena;Chaloyard, Jessica;, ;Manière, Marie Cécile;Berdal, Ariane;Bloch-Zupan, Agnès;
251 views DOI Abstract
2019
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras, Natasha;Ha, Thoa K;Rego, Shannon;Martin, Pierre-Marie;Barroso, Eva;Slavotinek, Anne M;Cilio, Maria R;
312 views DOI Abstract
2017
Descriptive study of the complete blood count in newborn infants with Down syndrome.
Martínez-Macías, Francisco Javier;Bobadilla-Morales, Lucina;González-Cruz, Janet;Quiles-Corona, Moisés;Corona-Rivera, Alfredo;Peña-Padilla, Christian;Orozco-Vela, Mireya;Silva-Cruz, Rocío;Velarde-Rivera, Fernando;Corona-Rivera, Jorge Román;
Vol. 173 , No. 4 , pp. 897-904
322 views DOI Abstract
2016
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
Tüysüz, Beyhan;Ercan-Sencicek, Adife Gülhan;Canpolat, Nur;Koparır, Asuman;Yılmaz, Saliha;Kılıçaslan, Işın;Gülez, Burcu;Bilguvar, Kaya;Günel, Murat;
Vol. 170A , No. 5 , pp. 1187-95
312 views DOI Abstract
2012
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
Velinov, Milen;Ahmad, Ausaf;Brown-Kipphut, Brigette;Shafiq, Mustafa;Blau, Jonathan;Cooma, Ruby;Roth, Philip;Iqbal, M Anwar;
Vol. 158A , No. 12 , pp. 3201-6
367 views DOI Abstract
41
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41.2/100

Tier: Below Average

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30.4/100

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15.0/100

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30.0/100

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40.0/100

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36.0/100

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50.0/100

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